Human Molecular Genetics

ARTICLES:

RA Williamson, MD Henry, KJ Daniels, RF Hrstka, JC Lee, Y Sunada, O Ibraghimov- Beskrovnaya, and KP Campbell

Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice
Hum. Mol. Genet. 1997 6: 831-841; doi:10.1093/hmg/6.6.831 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Carritt, TJ Kemp, and M Poulter

Evolution of the human RH (rhesus) blood group genes: a 50 year old prediction (partially) fulfilled [published erratum appears in Hum Mol Genet 1997 Aug;6(8):1390]
Hum. Mol. Genet. 1997 6: 843-850; doi:10.1093/hmg/6.6.843 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JA van den Hurk, W Hendriks, DJ van de Pol, F Oerlemans, G Jaissle, K Ruther, K Kohler, J Hartmann, E Zrenner, H van Bokhoven, B Wieringa, HH Ropers, and FP Cremers

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline
Hum. Mol. Genet. 1997 6: 851-858; doi:10.1093/hmg/6.6.851 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Alders, M Hodges, AK Hadjantonakis, J Postmus, I van Wijk, J Bliek, M de Meulemeester, A Westerveld, F Guillemot, C Oudejans, P Little, and M Mannens

The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts
Hum. Mol. Genet. 1997 6: 859-867; doi:10.1093/hmg/6.6.859 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Gotoda, BS Manning, AP Goldstone, H Imrie, AL Evans, AD Strosberg, PM McKeigue, J Scott, and TJ Aitman

Leptin receptor gene variation and obesity: lack of association in a white British male population
Hum. Mol. Genet. 1997 6: 869-876; doi:10.1093/hmg/6.6.869 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Martorell, K Johnson, CA Boucher, and M Baiget

Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
Hum. Mol. Genet. 1997 6: 877-880; doi:10.1093/hmg/6.6.877 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Oron-Karni, D Filon, D Rund, and A Oppenheim

A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene
Hum. Mol. Genet. 1997 6: 881-885; doi:10.1093/hmg/6.6.881 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Pasmanik-Chor, L Madar-Shapiro, EO Stein, H Aerts, S Gatt, and M Horowitz

Expression of mutated glucocerebrosidase alleles in human cells
Hum. Mol. Genet. 1997 6: 887-895; doi:10.1093/hmg/6.6.887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SD Rose and RJ MacDonald

Evolutionary silencing of the human elastase I gene (ELA1)
Hum. Mol. Genet. 1997 6: 897-903; doi:10.1093/hmg/6.6.897 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Oexle and A Zwirner

Advanced telomere shortening in respiratory chain disorders
Hum. Mol. Genet. 1997 6: 905-908; doi:10.1093/hmg/6.6.905 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JD Cogan, MA Prince, S Lekhakula, S Bundey, A Futrakul, EM McCarthy, and JA Phillips, 3rd

A novel mechanism of aberrant pre-mRNA splicing in humans
Hum. Mol. Genet. 1997 6: 909-912; doi:10.1093/hmg/6.6.909 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Habuchi, O Yoshida, and MA Knowles

A novel candidate tumour suppressor locus at 9q32-33 in bladder cancer: localization of the candidate region within a single 840 kb YAC
Hum. Mol. Genet. 1997 6: 913-919; doi:10.1093/hmg/6.6.913 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TM Bryan, L Marusic, S Bacchetti, M Namba, and RR Reddel

The telomere lengthening mechanism in telomerase-negative immortal human cells does not involve the telomerase RNA subunit
Hum. Mol. Genet. 1997 6: 921-926; doi:10.1093/hmg/6.6.921 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RA Freiberg, KA Choate, H Deng, ES Alperin, LJ Shapiro, and PA Khavari

A model of corrective gene transfer in X-linked ichthyosis
Hum. Mol. Genet. 1997 6: 927-933; doi:10.1093/hmg/6.6.927 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JW Taanman, AG Bodnar, JM Cooper, AA Morris, PT Clayton, JV Leonard, and AH Schapira

Molecular mechanisms in mitochondrial DNA depletion syndrome
Hum. Mol. Genet. 1997 6: 935-942; doi:10.1093/hmg/6.6.935 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

OK Steinlein, A Magnusson, J Stoodt, S Bertrand, S Weiland, SF Berkovic, KO Nakken, P Propping, and D Bertrand

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
Hum. Mol. Genet. 1997 6: 943-947; doi:10.1093/hmg/6.6.943 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Xenophontos, R Constantinides, T Hayashi, T Mochizuki, S Somlo, A Pierides, and CC Deltas

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)
Hum. Mol. Genet. 1997 6: 949-952; doi:10.1093/hmg/6.6.949 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RL Robinson, N Monnier, W Wolz, M Jung, A Reis, G Nuernberg, JL Curran, K Monsieurs, P Stieglitz, L Heytens, R Fricker, C van Broeckhoven, T Deufel, PM Hopkins, J Lunardi, and CR Mueller

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
Hum. Mol. Genet. 1997 6: 953-961; doi:10.1093/hmg/6.6.953 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Morizono, CD Listrom, BS Rajagopal, M Aoyagi, MT McCann, NM Allewell, and M Tuchman

'Late onset' ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes
Hum. Mol. Genet. 1997 6: 963-968; doi:10.1093/hmg/6.6.963 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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