HUM-MOLGEN archive: LITE: Human Molecular Genetics 06:05 (fwd)

Human Molecular Genetics Issue 06:05, May 1997 Oxford University Press ========================================== 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 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 REPORTS 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. 805 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 year. 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 ************************************************************************