JMG Online mutation reports

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome
C Fan, M A Duhagon, C Oberti, S Chen, Y Hiroi, I Komuro, P I Duhagon, R Canessa, Q Wang

Journal of Medical Genetics Mar 2003, 40 (3) e29; DOI: 10.1136/jmg.40.3.e29
Frequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples
I Sumitsuji, K Sugano, T Matsui, N Fukayama, K Yamaguchi, T Akasu, S Fujita, Y Moriya, R Yokoyama, S Nomura, T Yoshida, T Kodama, M Ogawa

Journal of Medical Genetics Mar 2003, 40 (3) e30; DOI: 10.1136/jmg.40.3.e30
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Journal of Medical Genetics Mar 2003, 40 (3) e32; DOI: 10.1136/jmg.40.3.e32
Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
Y M Smulders, B H J Eussen, S Verhoef, C H Wouters

Journal of Medical Genetics Feb 2003, 40 (2) e17; DOI: 10.1136/jmg.40.2.e17
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene
H Jacquet, J Berthelot, C Bonnemains, G Simard, P Saugier-Veber, G Raux, D Campion, D Bonneau, T Frebourg

Journal of Medical Genetics Jan 2003, 40 (1) e7; DOI: 10.1136/jmg.40.1.e7
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
S Bernal, C Ayuso, G Antiñolo, A Gimenez, S Borrego, M J Trujillo, I Marcos, M Calaf, E Del Rio, M Baiget

Journal of Medical Genetics Jan 2003, 40 (1) e8; DOI: 10.1136/jmg.40.1.e8
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
R Sitorus, S M Ardjo, B Lorenz, M Preising

Journal of Medical Genetics Jan 2003, 40 (1) e9; DOI: 10.1136/jmg.40.1.e9
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies
N Vandenberghe, M Upadhyaya, A Gatignol, L Boutrand, M Boucherat, G Chazot, A Vandenberghe, P Latour

Journal of Medical Genetics Dec 2002, 39 (12) e81; DOI: 10.1136/jmg.39.12.e81
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA^Ser(UCN) gene
F J del Castillo, M Villamar, M A Moreno-Pelayo, J J Almela, C Morera, I Adiego, F Moreno, I del Castillo

Journal of Medical Genetics Dec 2002, 39 (12) e82; DOI: 10.1136/jmg.39.12.e82
Correlation between a specific Wilms tumour suppressor gene (WT1) mutation and the histological findings in Wilms tumour (WT)
R Shibata, A Hashiguchi, J Sakamoto, T Yamada, A Umezawa, J Hata

Journal of Medical Genetics Dec 2002, 39 (12) e83; DOI: 10.1136/jmg.39.12.e83

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