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  Bergen (ioi): LITE: Human Molecular Genetics 05:11, Nov 1996  
   

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics 05:11, Nov 1996
From: "Bergen (ioi)" <A.A.Bergen@AMC.UVA.NL>
Date: Fri, 11 Oct 1996 08:39:34 +0200

==========================================
Human Molecular Genetics - ISSN 1964-6906
Volume 5, No 11
November 1996
==========================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
==========================================
CONTENTS
==========================================

NOTES:

1. Tables of contents for Human Molecular Genetics from
May 1995 to the latest issue can be found on the
HUM-MOLGEN web site at:-

http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/


2.     Abstracts for the papers listed below will shortly be
        available at the Oxford University Press World Wide
        Web site. Simply go to the Human Molecular Genetics home
        page at:-

http://www.oup.co.uk/hmg/

        and click on "Contents and Abstracts of Current
        Issues"

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


ARTICLE

        M H Jones, R A Furlong, H Burkin, I J Chalmers, G
        M Brown, O Khwaja and N A Affara

The Drosophila developmental gene fat facets has a human homologue in
Xp11.4 which escapes X-inactivation and has related sequences on
Yq11.2  P. 1695


REPORTS

        Y Yang, S E Haecker, Q Su and J M Wilson

Immunology of gene therapy with adenoviral vectors in mouse skeletal
muscle  P. 1703

        M-C Simmler, D B Cunningham, P Clerc, T Vermat,
        B Caudron, C Cruaud, A Pawlak, C Szpirer, J
        Weissenbach, J-M Claverie and P Avner

A 94 kb genomic sequence 3 to the murine Xist gene reveals an AT rich
region containing a new testis specific gene Tsx  P. 1713

        D W Parsons, P E McAndrew, U R Monani, J R
        Mendell, A H M Burghes and T W Prior

An 11 base pair duplication in exon 6 of the SMN gene produces a type I
spinal muscular atrophy (SMA) phenotype: further evidence for SMN as
the primary SMA-determining gene  P.1727

        R J Wenstrup, G T Langland, M C Willing, V N
        D'Souza , and W G Cole

A splice-junction mutation in the region of COL5A1 that codes for the
carboxyl propeptide of proalpha1(V) chains results in the gravis form of
the Ehlers-Danlos syndrome (type I)  P. 1733

        B Levinson, R Conant, R Schnur, S Das, S Packman
        and J Gitschier

A repeated element in the regulatory region of the MNK gene and its
deletion in a patient with occipital horn syndrome  P. 1737

        R-J Hu, M P Lee, L A Johnson and A P Feinberg

A novel human homologue of yeast nucleosome assembly protein, 65kb
centromeric to the p57KIP2 gene is biallelically expressed in fetal and
adult tissues  P. 1743

        M Speek, F Barry and W L Miller

Alternate promoters and alternate splicing of human tenascin-X, a gene
with  5 and 3 ends buried in other genes  P. 1749

        G Cooper, W Amos, D Hoffman and D C
        Rubinsztein

Network analysis of human Y microsatellite haplotypes  P. 1759

        M A Jobling, V Samara, A Pandya, N Fretwell, B
        Bernasconi, R J Mitchell, T Gerelsaikhan, B
        Dashnyam,  A Sajantila, P J Salo, Y Nakahori, C M
        Disteche, K Thangaraj, L Singh, M H Crawford and
        C Tyler-Smith

Recurrent duplication and deletion polymorphisms on the long arm of the
Y chromosome in normal males  P. 1767

        J E Parrish, A E Scheuerle, R A Lewis, M L Levy
        and D L Nelson

Selection against mutant alleles in blood leukocytes is a consistent feature
in Incontinentia Pigmenti Type 2  P. 1777

        P J Byrd, P R Cooper, T Stankovic, H S Kullar, G D
        J Watts, P J Robinson and A M R Taylor

A gene transcribed from the bidirectional ATM promoter coding for a
serine rich protein: amino acid sequence, structure and expression studies
P. 1785

        C L OKeefe, P E Warburton and A G Matera

Oligonucleotide probes for alpha satellite DNA variants can distinguish
homologous chromosomes by FISH  P. 1793

        F Schnieders, T Dork, J Arnemann, T Vogel, M
        Werner and J Schmidtke

Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues
P. 1801

        P Thomas, Y Ye and E Lightner

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to
familial persistent hyperinsulinemic hypoglycemia of infancy  P. 1809

        A Nestorowicz, B A Wilson, K P Schoor, H Inoue,
        B Glaser, H Landau, C A Stanley, P S Thornton, J P
        Clement IV, J Bryan, L Aguilar-Bryan and M A
        Permutt

Mutations in the sulfonylurea receptor gene are associated with familial
hyperinsulinism in Ashkenazi Jews  P. 1813

        C A May, A J Jeffreys and J A L Armour

Mutation rate heterogeneity and the generation of allele diversity at the
human minisatellite MS205 (D16S309)  P. 1823

        K Fu, R Hartlen, T Johns, A Genge, G Karpati and E
        A Shoubridge

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a
sporadic patient with mitochondrial encephalomyopathy segregates
rapidly in skeletal muscle and suggests an approach to therapy  P. 1835

        E M McNally, D Duggan, J R Gorospe, C G
        Bonneman, M Fanin, E Pegoraro, H G W Lidov, S
        Noguchi, E Ozawa, R S Finkel, R P Cruse, C
        Angelini, L M Kunkel and E P Hoffman

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan
cause muscular dystrophy  P. 1841

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

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 November 1996 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 October 1996.  If you would like further
details about Human Molecular Genetics, including details of
subscription rates, please contact:-

Richard Gedye
Oxford University Press
Great Clarendon 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.

03/09/96 November issue page 4
************************************************************************
Dr. Arthur A.B. Bergen
Department of Ophthalmogenetics
The Netherlands Ophthalmic Research Institute (IOI)
Royal Academy of Sciences of the Netherlands (KNAW)

** Snail-mail: **           ** FAX: **             ** E-mail: **

P.O.Box 12141               (+31)206916521         A.Bergen@IOI.KNAW.NL
1100 AC  Amsterdam
The Netherlands
************************************************************************


   
 
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