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  Human Molecular Genetics: February 1996 (Volume 5, No 2)  
  February 01, 1996

virtual library in human genetics and molecular biology

 
     
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA




Oxford University Press
  Date of publishing: February, 1996  
  ISSN 1964-6906



ARTICLE

Absence of disease phenotype and intergenerational stability
of the CAG repeat in transgenic mice expressing the human
Huntington disease transcript
Y P Goldberg, M A Kalchman, M Metzler
J Nasir, J Zeisler, R Graham, H B Koide
J O'Kusky, A H Sharp, C A Ross, F Jirik
and M R Hayden P. 177


REPORTS

FRA3B extends over a broad region and contains a
spontaneous HPV16 integration site: direct evidence
for the coincidence of viral integration sites and fragile sites
C M Wilke, B K Hall, A Hoge, W Paradee,
D I Smith and T W Glover P. 187


Relationship of genotype to phenotype in fibroblast-derived
transmitochondrial cell lines carrying the 3243 mutation
associated with the MELAS encephalomyopathy: shift
towards mutant genotype and role of mtDNA copy number
H A C M Bentlage and G Attardi P.197


Analysis of CAG repeat of the Machado-Joseph gene in
human, chimpanzee and monkey populations: a variant
nucleotide is associated with the number of CAG repeats
P Limprasert, N Nouri, R A Heyman,
C Nopparatana, M Kamonsilp,
P L Deininger and B J B Keats P. 207


Somatic mutations are frequent and increase with age
in human kidney epithelial cells
G M Martin, C E Ogburn, L M Colgin
A M Gown, S D Edland and R J Monnat
P. 215

Molecular characterization of breakpoints in patients with
holoprosencephaly and definition of the HPE2 critical region
2p21
U Schell, J Wienberg, A Koehler P Bray-Ward,
D E Ward, W G Wilson, W P Allen, R R Lebel,
J R Sawyer, P L Campbell, D J Aughton,
H H Punnett, E J Lammer, F-T Kao, D C Ward
and M Muenke P. 223


Mutational hotspots in the LAMB3 gene in the lethal
(Herlitz) type of junctional epidermolysis bullosa
S Kivirikko, J A McGrath, L Pulkkinen
J Uitto and A M Christiano P. 231


Localization of a tumor suppressor gene in 11p15.5
using the g401 Wilms' tumor assay
L H Reid, A West, D G Gioeli,
K K Phillips, K F Kelleher, D Araujo,
E J Stanbridge, S F Dowdy, D S Gerhard
and B E Weissman P. 239


Novel mutations detected in the TSC2 gene from
both sporadic and familial TSC patients
P J Wilson, V Ramesh, A Kristiansen,
C Bove, S Jozwiak, D J Kwiatkowski
M P Short and J L Haines P.249


Molecular analysis of the SMN and NAIP genes in
Spanish spinal muscular atrophy (SMA) families and
correlation between number of copies of cBCD541
and SMA phenotype
E Velasco, C Valero, A Valero, F Moreno
and C Hernandez-Chico P. 257


Functional analysis of six androgen receptor mutations
identified in patients with partial androgen insensitivity
syndrome
C L Bevan, B B Brown, H R Davies
B A J Evans, I A Hughes and M N Patterson
P. 265


A candidate gene for mild mental handicap at the FRAXE
fragile site
L Chakrabarti, S J L Knight, A V Flannery
and K E Davies P. 275


Elevation in the ratio of Cu/Zn-superoxide dismutase to
glutathione peroxidase activity induces features of cellular
senescence and this effect is mediated by hydrogen peroxide
J B de Haan, F Cristiano, R Iannello
C Bladier, M J Kelner, I Kola P. 283


LINKAGE REPORT

Localisation of pseudohypoaldosteronism genes to
chromosome 16p12.2-13.11 and 12p13.1-pter by
homozygosity mapping
S S Strautnieks, R J Thompson,
A Hanukoglu, M J Dillon, I Hanukoglu,
U Kuhnle, J Seckl, R M Gardiner and
E Chung P. 293



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


 
     
For further information please contact: Richard Gedye
Oxford University Press

Walton Street
Oxford, OX2 6DP, United Kingdom
  Posted by:   Richard Gedye (Gedye)  
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