✦ LIBER ✦

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female

✍ Scribed by Laurie A. Demmer; Jean M. Kim; Berengere de Martinville; S. Bruce Dowton

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 85 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)7:3<279::aid-humu16>3.0.co;2-#

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel complex mutation of the OTC (orn

A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree

✍ A.S.B. Khoo; P. Balraj; A. Rachedi; C.N. Chin; L. Volpi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

A novel missense mutation, S1159F, in ex

A novel missense mutation, S1159F, in exon 19 of the CFTR gene

✍ Hans Hermann Seydewitz; Marcus Mall; Joachim Kuehr 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

A novel missense mutation in the paired

A novel missense mutation in the paired domain of human PAX9 causes oligodontia

✍ Jilin Zhao; Qingang Hu; Yangxi Chen; Songjiao Luo; Lang Bao; Yue Xu 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 1 views

A novel missense mutation (Y89C) in exon

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male

✍ Rita Padoan; Diana Costantini; Maria Chiara Russo; Antonella Ambrosioni; Sabrina 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

A novel missense mutation in exon 16 of

A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients

✍ Thierry Bienvenu; Dominique Hubert; Eric Setbon; Daniel Dusser; Jean-Claude Kapl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 2 views

## MUTATION NOTES nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null

A novel missense mutation (G209R) in exo

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease

✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af