Human Molecular Genetics

ARTICLES:

SK Heath, S Carne, C Hoyle, KJ Johnson, and DJ Wells

Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus
Hum. Mol. Genet. 1997 6: 651-657; doi:10.1093/hmg/6.5.651 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Morell, RA Spritz, L Ho, J Pierpont, W Guo, TB Friedman, and JH Asher, Jr

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
Hum. Mol. Genet. 1997 6: 659-664; doi:10.1093/hmg/6.5.659 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Litt, R Carrero-Valenzuela, DM LaMorticella, DW Schultz, TN Mitchell, P Kramer, and IH Maumenee

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
Hum. Mol. Genet. 1997 6: 665-668; doi:10.1093/hmg/6.5.665 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Pulkkinen, VE Kimonis, Y Xu, EN Spanou, WH McLean, and J Uitto

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
Hum. Mol. Genet. 1997 6: 669-674; doi:10.1093/hmg/6.5.669 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DB Thompson, E Ravussin, PH Bennett, and C Bogardus

Structure and sequence variation at the human leptin receptor gene in lean and obese Pima Indians
Hum. Mol. Genet. 1997 6: 675-679; doi:10.1093/hmg/6.5.675 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HB Nguyen, M Estacion, and JJ Gargus

Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF- induced calcium signals in human diploid fibroblasts
Hum. Mol. Genet. 1997 6: 681-688; doi:10.1093/hmg/6.5.681 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NC Arbour, J Zlotogora, RG Knowlton, S Merin, A Rosenmann, AB Kanis, T Rokhlina, EM Stone, and VC Sheffield

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
Hum. Mol. Genet. 1997 6: 689-694; doi:10.1093/hmg/6.5.689 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

BS 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, JP Harpey, JM Saudubray, DE Hale, L Bolund, S Kolvraa, and N Gregersen

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Hum. Mol. Genet. 1997 6: 695-707; doi:10.1093/hmg/6.5.695 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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, AS Lebre, M Yahyaoui, F Hentati, JC Vernant, T Klockgether, JL Mandel, Y Agid, and A Brice

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families
Hum. Mol. Genet. 1997 6: 709-715; doi:10.1093/hmg/6.5.709 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

O Nilssen, T Berg, HM Riise, U Ramachandran, G Evjen, GM Hansen, D Malm, L Tranebjaerg, and OK Tollersrud

alpha-Mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings
Hum. Mol. Genet. 1997 6: 717-726; doi:10.1093/hmg/6.5.717 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Dixon, K Hovanes, R Shiang, and MJ 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
Hum. Mol. Genet. 1997 6: 727-737; doi:10.1093/hmg/6.5.727 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Pomponio, TR Reynolds, H Mandel, O Admoni, PD Melone, GA 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
Hum. Mol. Genet. 1997 6: 739-745; doi:10.1093/hmg/6.5.739 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Allamand, Y Sunada, MA Salih, V Straub, CO Ozo, MH Al-Turaiki, M Akbar, T Kolo, H Colognato, X Zhang, LM Sorokin, PD Yurchenco, K Tryggvason, and KP Campbell

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain
Hum. Mol. Genet. 1997 6: 747-752; doi:10.1093/hmg/6.5.747 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Ohno, PA Quiram, M Milone, HL Wang, MC Harper, JN Pruitt, 2nd, JM Brengman, L Pao, KH Fischbeck, TO Crawford, SM Sine, and AG Engel

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
Hum. Mol. Genet. 1997 6: 753-766; doi:10.1093/hmg/6.5.753 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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 alpha subunit in patients with the slow-channel congenital myasthenic syndrome
Hum. Mol. Genet. 1997 6: 767-774; doi:10.1093/hmg/6.5.767 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SM McNeil, A Novelletto, J Srinidhi, G Barnes, I Kornbluth, MR Altherr, JJ Wasmuth, JF Gusella, ME MacDonald, and RH Myers

Reduced penetrance of the Huntington's disease mutation
Hum. Mol. Genet. 1997 6: 775-779; doi:10.1093/hmg/6.5.775 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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
Hum. Mol. Genet. 1997 6: 781-786; doi:10.1093/hmg/6.5.781 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Blanch, B Weber, XH Guo, HS Scott, and JJ Hopwood

Molecular defects in Sanfilippo syndrome type A
Hum. Mol. Genet. 1997 6: 787-791; doi:10.1093/hmg/6.5.787 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GH Feng, T Bailin, J Oh, and RA Spritz

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron
Hum. Mol. Genet. 1997 6: 793-797; doi:10.1093/hmg/6.5.793 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees
Hum. Mol. Genet. 1997 6: 799-803; doi:10.1093/hmg/6.5.799 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Wollnik, C Kubisch, K Steinmeyer, and M Pusch

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations
Hum. Mol. Genet. 1997 6: 805-811; doi:10.1093/hmg/6.5.805 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RC Trembath, RL Clough, JL Rosbotham, AB Jones, RD Camp, A Frodsham, J Browne, R Barber, J Terwilliger, GM Lathrop, and JN 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
Hum. Mol. Genet. 1997 6: 813-820; doi:10.1093/hmg/6.5.813 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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)
Hum. Mol. Genet. 1997 6: 821-825; doi:10.1093/hmg/6.5.821 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

C Cecchi, M Biasotto, M Tosi, and P Avner

The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene
Hum. Mol. Genet. 1997 6: 829. [Request Permissions]  

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