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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics - Contents 4/8
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Tue, 4 Jul 1995 18:58:13 +0100

==============================================================
Human Molecular Genetics - ISSN 1964-6906
Volume 4, No 8
August 1995
==============================================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
==============================================================
CONTENTS
==============================================================


ARTICLES

Expression of human full-length and minidystrophin in
transgenic mdx mice: implications for gene therapy of Duchenne
muscular dystrophy
     D J Wells, K E Wells, E A Asante, G Turner,
     Y Sunada, K P Campbell, F S Walsh and G Dickson.   P.1245

Expression of full-length and truncated dystrophin mini-genes
in transgenic mdx mice
     S F Phelps, M A Hauser, N M Cole, J A Rafael,
     R T Hinkle, J A Faulkner and J S Chamberlain.                   P.1251

Comparison of the positional cloning methods used to isolate
the BRCA1 gene
     K Harshman, R Bell, J Rosenthal, H Katcher, Y Miki,
     J Swenson, Z Gholami, C Frye, W Ding, P Dayananth,
     K Eddington, F H Norris, P K Bristow, R Phelps,
     T Hattier, S Stone, D Shaffer, S Bayer, C Hussey,
     T Tran, K Richardson, B Dehoff, M Lai, P R Rosteck,Jr,
     M H Skolnick, D Shattuck-Eidens and A Kamb.                     P.1259

On unequal allelic expression of the neurofibromin gene in
neurofibromatosis type 1
     S Hoffmeyer, G Assum, J Griesser, D Kaufmann,
     P Nurnberg and W Krone.                                         P.1267

Allelic association and deletions in autosomal recessive
proximal spinal muscular atrophy: association of marker
genotype with disease severity and candidate cDNAs
     B Wirth, E Hahnen, K Morgan, C J DiDonato,
     A Dadze, S Rudnik-Schoneborn, L R Simard,
     K Zerres and A H M Burghes.                                     P.1273

A large deletion together with a point mutation in the GALC
gene is a common mutant allele in patients with infantile
Krabbe disease
     M A Rafi, P Luzi, Y Q Chen and D A Wenger.                      P.1285

Model for a transcript map of human chromosome 21: isolation
of new coding sequences from exon and enriched cDNA libraries
     M-L Yaspo, L Gellen, R Mott, B Korn, D Nizetic,
     A Poustka and H Lehrach.                                        P.1291


REPORTS

Localization of 102 exons to a 2.5 Mb region involved in Down
syndrome
     D Lucente, H M Chen, D Shea, S N Samec, M Rutter,
     R Chrast, C Rossier, A Buckler, S E Antonarakis and
     M K McCormick.                                                  P.1305

A widespread amino acid polymorphism at codon 905 of the
glycogen-associated regulatory subunit of protein
phosphatase-1 is associated with insulin resistance and
hypersecretion of insulin
     L Hansen, T Hansen, H Vestergaard, C Bjorbaek,
     S M Echwald, J O Clausen, Y H Chen, M X Chen,
     P T W Cohen and O Pedersen.                                     P.1313

Characterization of the 5' region of the Fanconi anaemia group
C (FACC) gene
     A Savoia, M Centra, L Ianzano, G P de Cillis,
     L Zelante and M Buchwald.                                       P.1321

Spectrum of mitochondrial DNA rearrangements in the Pearson
marrow-pancreas syndrome
     A Rotig, T Bourgeron, D Chretien, P Rustin and
     A Munnich.                                                      P.1327

A novel nonsense mutation in the PKD1 gene (C3817T) is
associated with autosomal dominant polycystic kidney disease
(ADPKD) in a large three-generation Italian family
     A E Turco, S Rossetti, E Bresin, S Corra',
     L Gammaro, G Maschio and P F Pignatti.                          P.1331

A transcribed human sequence related to the mouse HC1 and the
human papillomavirus type 18 E5 genes is located at chromosome
7p13-14
     C Geisen, H Delius, P Lichter and T Kahn.                       P.1337

A yeast artificial chromosome contig from human chromosome
14q24 spanning the Alzheimer's disease locus AD3
     R F Clark, M Cruts, K M Korenblat, C He, C Talbot,
     C Van Broeckhoven and A M Goate.                                P.1347

Genetic and physical characterization of the early-onset
Alzheimer's disease AD3 locus on chromosome 14q24.3
     M Cruts, H Backhovens, J Theuns, R F Clark,
     D Le Paslier, J Weissenbach, A M Goate, J-J Martin
     and C Van Broeckhoven.                                          P.1355

Expression of the Huntington's disease (IT15) protein product
in HD patients
     G Schilling, A H Sharp, S J Loev, M V Wagster,
     S-H Li, O C Stine and C A Ross.                                 P.1365

Isolation of chromosome-specific genes by reciprocal probing
of arrayed cDNA and cosmid libraries
     C C Lee, A Yazdani, M Wehnert, Z Y Zhao,
     E A Lindsay, J Bailey, M I Coolbaugh, L Couch,
     M Xiong, A C Chinault, A Baldini and C T Caskey.                P.1373

Diversity of RET proto-oncogene mutations in familial and
sporadic Hirschsprung disease
     T Attie, A Pelet, P Edery, C Eng, L M Mulligan,
     J Amiel, L Boutrand, C Beldjord, C Nihoul-Fekete,
     A Munnich, B A J Ponder and S Lyonnet.                          P.1381

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a
common point mutation shared with Jackson-Weiss syndrome
     M C Gorry, R A Preston, G J White, Y Zhang,
     V K Singhal, H W Losken, M G Parker, N A Nwokoro,
     J C Post and G D Ehrlich.                                       P.1387

Autosomal recessive lamellar icthyosis: identification of a
new mutation in transglutaminase 1 and evidence for genetic
heterogeneity
     L Parmentier, C Blanchet-Bardon, S Nguyen,
     J-F Prud'homme, L Dubertret and J Weissenbach.                  P.1391

Myotonia levior is a chloride channel disorder
     F Lehmann-Horn, V Mailander, R Heine and
     A L George.                                                     P.1397

Inactivation of Apoe and Apoc1 by two consecutive rounds of
gene targeting: effects on mRNA expression levels of gene
cluster members
     J H van Ree, W J J A van den Broek, A van der Zee,
     V E H Dahlmans, B Wieringa, R R Frants,
     L M Havekes and M H Hofker.                                     P.1403

Friedreich's ataxia: a defect in signal transduction?
     J J Carvajal, M A Pook, K Doudney, R Hillermann,
     D Wilkes, S Al-Mahdawi, R Williamson and
     S Chamberlain.                                                  P.1411

Maternally inherited hearing loss, ataxia and myoclonus
associated with a novel point mutation in mitochondrial
tRNASer(UCN)gene
     V Tiranti, P Chariot, F Carella, A Toscano, P Soliveri,
     P Girlanda, F Carrara, G M Fratta, F M Reid,
     C Mariotti and M Zeviani.                                       P.1421

A nonsense mutation of the human luteinizing hormone receptor
gene in Leydig cell hypoplasia
     L Laue, S-M Wu, M Kudo, A J W Hsueh, G B Cutler,Jr,
     J E Griffin, J D Wilson, C Brain, A C Berry,
     D B Grant and W-Y Chan.                                         P.1429


LINKAGE REPORTS

Linkage of autosomal dominant iris hypoplasia to the region of
the Rieger syndrome locus (4q25)
     E Heon, B P Sheth, J W Kalenak, S L F Sunden,
     L M Streb, C M Taylor, W L M Alward, V C Sheffield
     and E M Stone.                                                  P.1435

Localization of autosomal dominant cerebellar ataxia
associated with retinal degeneration and anticipation to
chromosome 3p12-p21.1
     M Holmberg, J Johansson, L Forsgren, J Heijbel,
     O Sandgren and G Holmgren.                                      P.1441

A gene for Leber's congenital amaurosis maps to chromosome 17p
     A Camuzat, H Dollfus, J-M Rozet, S Gerber,
     D Bonneau, M Bonnemaison, M-L Briard,
     J-L Dufier, I Ghazi, C Leowski, J Weissenbach,
     J Frezal, A Munnich and J Kaplan.                               P.1447

Localization of the syndactyly type II (synpolydactyly) locus
to 2q31 region and identification of tight linkage to HOXD8
intragenic marker
     M Sarfarazi, A N Akarsu and B S Sayli.                          P.1453

An eighth locus for autosomal dominant retinitis pigmentosa is
linked to chromosome 17q
     S Bardien, N Ebenezer, J Greenberg, C F Inglehearn,
     L Bartmann, R Goliath, P Beighton, R Ramesar and
     S S Bhattacharya.                                               P.1459


MUTATION REPORTS

Recurrent nasal polyps as a monosymptomatic form of cystic
fibrosis associated with a novel in-frame deletion (591del18)
in
the CFTR gene
     R Varon, K Magdorf, D Staab, H-U Wahn,
     M Krawczak, K Sperling and A Reis.                              P.1463

Molecular analysis of four males with mental retardation and
deletions of Xq21 places the putative Mr region in Xq21.1
between DXS233 and CHM
     M May, L Colleaux, A Murgia, A Aylsworth,
     R Nussbaum, M Fontes and C Schwartz.                            P.1465

Further mutations in Brain 4 (POU3F4) clarify the phenotype in
the X-linked deafness, DFN3
     M Bitner-Glindzicz, P Turnpenny, P Hoglund,
     H Kaariainen, E-M Sankila, S M van der Maarel,
     Y J M de Kok, H-H Ropers, F P M Cremers,
     M Pembrey and S Malcolm.                                        P.1467

A de novo frame-shift mutation in the tuberin gene
     A Kumar, C Wolpert, R S Kandt, J Segal, J Pufky,
     A D Roses, M A Pericak-Vance and J R Gilbert.                   P.1471


Author index                                                         P.1473


==============================================================

Human Molecular Genetics is a monthly journal of original
peer-reviewed research, published by Oxford University Press.
In addition to the regular monthly issues, a special review
issue, reviewing important developments in the field, is
published each year.

The papers listed above will appear in the August 1995 issue,
which is shortly to be printed.  Copies are scheduled for
despatch to subscribers on the 20 July 1995.  If you would
like further details about Human Molecular Genetics, including
details of subscription rates, please contact:-

Richard Gedye
Oxford University Press
Walton Street
Oxford  OX2 6DP
United Kingdom
Tel: +44 1865 267785
Fax: +44 1865 267782
E-Mail: gedyer@oup.co.uk

Copyright in the table of contents listed above is held by
Oxford University Press, but you are welcome to circulate them
further, provided that Oxford University Press is credited as
publisher and copyright holder.


   
 
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