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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics 5:6
From: "Frank S. Zollmann" <Frank.Zollmann@rz.uni-rostock.de>
Date: Fri, 3 May 1996 07:38:54 +0200

==========================================
Human Molecular Genetics - ISSN 1964-6906
Volume 5, No 6
June 1996
==========================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
==========================================
CONTENTS
==========================================


ARTICLES

Targeted disruption of the mouse sphingolipid activator
protein gene: a complex phenotype, including severe
leukodystrophy and wide-spread storage of multiple
sphingolipids

        Nobuya Fujita, Kinuko Suzuki, Marie T. Vanier,
        Brian Popko, Nobuyo Maeda, Andreas Klein,
        Margarete Henseler, Konrad Sandhoff, Hiroyuki
        Nakayasu and Kunihiko Suzuki

P. 711


Population screening at the FRAXA and FRAXE loci:
molecular analyses of boys with learning difficulties and their
mothers

        Anna Murray, Sheila Youings, Nick Dennis, Lorinda
        Latsky, Paul Linehan, Nicky McKechnie, James
        Macpherson, Michelle Pound and Patricia Jacobs

P. 727


Ser72Pro active-site disease mutation in human lysosomal
aspartylglucosaminidase: abnormal intracellular processing
and evidence for extracellular activation

        Minna Peltola, Ritva Tikkanen, Leena Peltonen and
        Anu Jalanko

P. 737


Primate origin of the CMT1A-REP repeat and analysis of a
putative transposon-associated recombinational hotspot

        Hidenori Kiyosawa and Phillip F. Chance

P. 745



REPORTS

Mutational scanning of large genes by extensive PCR
multiplexing and two-dimensional electrophoresis:
application to the RB1 gene

        Nathalie J. Van Orsouw, Daizong Li, Pieter van der
        Vlies, Hans Scheffer, Charis Eng, Charles H.C.M.
        Buys, Frederick P. Li and Jan Vijg

P. 755


DNA mismatch repair gene mutations in 55 kindreds with
verified or putative hereditary non-polyposis colorectal
cancer

        Minna Nystrom-Lahti, Ying Wu, Anu-Liisa Moisio,
        Robert M.W. Hofstra, Jan Osinga, Jukka-Pekka
        Mecklin, Heikki J. Jarvinen, Jaakko Leisti, Charles
        H.C.M. Buys, Albert de la Chapelle and Paivi
        Peltomaki

P.763


Cloning and expression of the gene involved in Sanfilippo B
syndrome (mucopolysaccharidosis III B)

        Birgit Weber, Lianne Blanch, Peter R. Clements,
        Hamish S. Scott and John J. Hopwood

P.771


Genetic association between monoamine oxidase A
microsatellite and RFLP alleles and bipolar affective
disorder: analysis and meta-analysis

        D.C. Rubinsztein, J. Leggo, S. Goodburn, C. Walsh,
        S. Jain and E.S. Paykel

P. 779

Genomic imprinting of human p57KIP2 and its reduced
expression in Wilms' tumors

        Izuho Hatada, Johji Inazawa, Tatsuo Abe, Masahiro
        Nakayama, Yasuhiko Kaneko, Yoshihiro Jinno, Norio
        Niikawa, Hirofumi Ohashi, Yoshimitsu Fukushima,
        Kazuki Iida, Chikao Yutani, Shun-ichi Takahashi,
        Yoshihide Chiba, Sachiko Ohishi and Tsunehiro Mukai

P. 783


A transcription map of the DiGeorge and velocardiofacial
syndrome minimal critical region on 22q11

        Weilong Gong, Beverly S. Emanuel, Joelle Collins,
        David H. Kim, Zhili Wang, Feng Chen, Guozhong
        Zhang, Bruce Roe and Marcia L. Budarf

P.789


The Emery-Dreifuss muscular dystrophy protein, emerin, is a
nuclear membrane protein

        S. Manilal, Nguyen thi Man, C.A. Sewry and G. E.
        Morris

P.801


FMRP is associated to the ribosomes via RNA

        Filippo Tamanini, Nicolle Meijer, Coleta Verheij,
        Patrick J. Willems, Hans Galjaard, Ben A. Oostra and
        Andre T. Hoogeveen

P. 809


Linkage analysis in autosomal recessive limb-girdle muscular
dystrophy (AR LGMD) maps a sixth form to 5q33-34
(LGMD2F) and indicates that there is at least one more
subtype of AR LGMD

        M.R. Passos-Bueno, E.S. Moreira, M. Vainzof, S.K.
        Marie and M. Zatz

P.815


Analysis of germline variation at the FMR1 CGG repeat
shows variation in the normal-premutated borderline range

        Etienne Mornet, Corinne Chateau, Mark C. Hirst,
        Francois Thepot, Agnes Taillandier, Olivier Cibois
        and Jean-Louis Serre

P. 821

Identification of a gene disrupted by a microdeletion in a
patient with X-linked retinitis pigmentosa (XLRP)

        Ronald Roepman, David Bauer, Thomas Rosenberg.
        Gerard van Duijnhoven, Esther van de Vosse,
        Matthias Platzer, Andre Rosenthal, Hans-Hilger
        Ropers, Frans P.M. Cremers and Wolfgang Berger

P. 827


Comparison of BRCA1 polymorphisms, rare sequence
variants and/or missense mutations in unaffected and
breast/ovarian cancer populations

        Francine Durocher, Donna Shattuck-Eidens, Melody
        McClure, Fernand Labrie, Mark H. Skolnick, David
        E. Goldgar and Jacques Simard

P. 835


LINKAGE REPORTS

A gene which causes severe ocular alterations and occipital
encephalocele (Knobloch Syndrome) is mapped to 21q22.3

        A.L. Sertie, M. Quimby, E.S. Moreira, J. Murray, M.
        Zatz, S.E. Antonarakis and M.R. Passos-Bueno

P. 843


A gene for a dominant form of non-syndromic sensorineural
deafness (DFNA11) maps within the region containing the
DFNB2 recessive deafness gene

        Yuya Tamagawa, Ken Kitamura, Takashi Ishida,
        Kazuhiro Ishikawa, Hajime Tanaka, Shoji Tsuji and
        Masatoyo Nishizawa

P.849


A gene for autosomal dominant late-onset progressive non-
syndromic hearing loss, DFNA10, maps to chromosome 6

        Marsha E. O'Neill, Jacquie Marietta, Darryl
        Nishimura, Sigrid Wayne, Guy Van Camp, Lut Van
        Laer, Clelia Negrini, Edward R. Wilcox, Achih Chen,
        Kunihiro Fukushima, Li Ni, Val C. Sheffield and
        Richard J.H. Smith

P. 853


Close mapping of the focal non-epidermolytic palmoplantar
keratoderma (PPK) locus associated with oesophageal cancer
(TOC)

        David P. Kelsell, Janet M. Risk, Irene M. Leigh,
        Howard P. Stevens, Anthony Ellis, Hans C. Hennies,
        Andre Reis, Jean Weissenbach, D. Timothy Bishop,
        Nigel K. Spurr and John K. Field

P. 857

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

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 June 1996 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 May 1996.  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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