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Subject: LITE: Human Molecular Genetics 06:05 (fwd)
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Tue, 25 Mar 1997 09:42:57 +0100

Human Molecular Genetics
Issue 06:05, May 1997
Oxford University Press
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA


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:-


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:-


        and click on "Contents and Abstracts of Current



        S K Heath, S Carne, C Hoyle, K J Johnson and D J Wells

Characterisation of expression of mDMAHP, a homeodomain-encoding gene
at the murine DM locus  P. 651


        R Morell, R A Spritz, L Ho, J Pierpont, W Guo, T B Friedman and J
        H Asher Jr

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and
autosomal recessive ocular albinism (AROA)  P. 659

        M Litt, R Carrero-Valenzuela, D M LaMorticella, D W Schultz, T N
        Mitchell, P Kramer and I H Maumenee

Autosomal dominant cerulean cataract is associated with a chain termination
mutation in the human beta crystallin gene CRYBB2  P. 665

        L Pulkkinen, V E Kimonis, Y Xu, E N Spanou, W H I McLean
        and J Uitto

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa
with congenital duodenal atresia  P. 669

        D B Thompson, E Ravussin, P H Bennett and C Bogardus

Structure and sequence variation at the human leptin receptor gene in lean
and obese Pima Indians  P. 675

        H B Nguyen, M Estacion and J J Gargus

Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF
induced calcium signals in human diploid fibroblasts  P. 681

        N C Arbour, J Zlotogora, R G Knowlton, S Merin, A Rosenmann, A
        B Kanis, T Rokhlina, E M Stone and V C Sheffield

Homozygosity mapping of achromatopsia to chromosome 2 using DNA
pooling  P. 689

        B S Andresen, P Bross, S Udvari, J Kirk, G Gray, S Kmoch, N
        Chamoles, I Knudsen, V Winter, B Wilcken, I Yokota, K Hart, S
        Packman, J P Harpey, J M Saudubray, D E Hale, L Bolund, S
        Kolvraa and N Gregerson

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD)
deficiency in compound heterozygous patients: is there correlation between
genotype and phenotype?  P. 695

        G Cancel, A Durr, O Didierjean, G Imbert, K Burk, A Lezin, S
        Belal, A Benomar, M Abada-Bendib, C Vial, J Guimaraes, H
        Chneiweiss, G Stevanin, G Yvert, N Abbas, F Saudou, A-S Lebre,
        M Yahyaoui, F Hentati, J-C Vernant, T Klockgether, J-L Mandel, Y
        Agid and A Brice

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32
families  P. 709

        O Nilssen, T Berg, H M F Riise, U Ramachandran, G Evjen, G M
        Hansen, D Malm, L Tranebjaerg and O K Tollersrud

a-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase
cDNA and identification of a mutation in two affected siblings  P. 717

        J Dixon, K Hovanes, R Shiang and M J Dixon

Sequence analysis, identification of evolutionary conserved motifs and
expression analysis of murine tcof1 provide further evidence for a potential
function for the gene and its human homologue, TCOF1  P. 727

        R J Pomponio, T R Reynolds, H Mandel, O Admoni, P D Melone,
        G A Buck and B Wolf

Profound biotinidase deficiency caused by a point mutation that creates a
downstream cryptic 3' splice acceptor site within an exon of the human
biotinidase gene  P. 739

        V Allamand, Y Sunada, M A M Salih, V Straub, C O Ozo, M H S
        Al-Turaiki, M Akbar, T Kolo, H  Colognato, X Zhang, L M
        Sorokin, P D Yurchenco, K Tryggvason and K P Campbell

Mild congenital muscular dystrophy in two patients with an internally deleted
laminin alpha2-chain  P. 747

        K Ohno, P A Quiram, M Milone, H-L Wang, M C Harper, J N Pruitt
        II, J M Brengman, L Pao, K H Fischbeck, T O Crawford, S M Sine
        and A G Engel

Congenital myasthenic syndromes due to heteroallelic nonsense/missense
mutations in the acetylcholine receptor epsilon subunit gene: identification
and functional characterization of 6 new mutations  P. 753

        R Croxen, C Newland, D Beeson, H Oosterhuis, G Chauplannaz, A
        Vincent and J Newsom-Davis

Mutations in different functional domains of the human muscle acetylcholine
receptor alphasubunit in patients with the slow-channel congenital
myasthenic syndrome  P. 767

        S M McNeil, A Novelletto, J Srinidhi, G Barnes, I Kornbluth, M R
        Altherr, J J Wasmuth, J F Gusella, M E MacDonald and R H Myers

Reduced penetrance of the Huntington's disease mutation  P. 775

        S Kobayashi, T Kohda, N Miyoshi, Y Kuroiwa, K Aisaka, O
        Tsutsumi, T Kaneko-Ishino and F Ishino

Human PEG1/MEST, an imprinted gene on chromosome 7  P. 781

        L Blanch, B Weber, X-H Guo, H S Scott and J J Hopwood

Molecular defects in Sanfilippo syndrome type A  P. 787

        G H Feng, T Bailin, J Oh and R A Spritz

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome
and contains a rare 'AT-AC' intron  P. 793

        E Heyer, J Puymirat, P Dieltjes, E Bakker and P de Knijff

Estimating Y-chromosome-specific microsatellite mutation frequencies using
deep rooting pedigrees  P. 799

        B Wollnik, C Kubisch, K Steinmeyer and M Pusch

Identification of functionally important regions of the muscular chloride
channel ClC-1 by analysis of recessive and dominant myotonic mutations  P.

        R C Trembath, R L Clough, J L Rosbotham, A B Jones, R D R
        Camp, A Frodsham, J Browne, R Barber, J Terwilliger, G M
        Lathrop and  J N W N Barker

Identification of a major susceptibility locus on chromosome 6p and
evidence for further disease loci revealed by a two stage genome-wide
search in psoriasis  P. 813

        E Hahnen, J Schonling, S Rudnik-Schoneborn, H Raschke, K Zerres
        and B Wirth

Missense mutations in exon 6 of the survival motor neuron gene in patients
with spinal muscular atrophy (SMA)  P. 821


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

The papers listed above will appear in the May 1997 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 April 1997.  If you would like further
details about Human Molecular Genetics, including details of
subscription rates, please contact:-

Journals Subscriptions Department
Oxford University Press
Great Clarendon Street
Oxford  OX2 6DP
United Kingdom
Tel: +44 1865 267907
Fax: +44 1865 267485
E-mail: jnl.info@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.

18/03/97 May 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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