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  Human Molecular Genetics: May 1997 (Volume 6, No 5)  
  May 01, 1997

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: May, 1997  
  ISSN 0261 - 4189SSN 1964-6906


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.

Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate it further, provided that Oxford University Press is credited as publisher and copyright holder.

 
     
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