𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of 605ins46, a novel GJB2 mutation in a Japanese family

✍ Scribed by Isamu Yuge; Akihiro Ohtsuka; Tatsuo Matsunaga; Shin-ichi Usami

Book ID
117544822
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
335 KB
Volume
29
Category
Article
ISSN
0385-8146

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Identification of a novel mutation of th
Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family
✍ Susa, Shinji; Daimon, Makoto; Kondo, Hiroshi; Kondo, Masao; Yamatani, Keiichi; S πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 17 KB πŸ‘ 2 views

Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain

A deletion mutation in GJB6 cooperating
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
✍ Israela Lerer; Michal Sagi; Ziva Ben-Neriah; Tieling Wang; Haya Levi; Dvorah Abe πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 92 KB

A deletion of at least 140 kb starting ~35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7 patients from 4 unrelated Jewish Ashkenazi families with non-syndromic hearing loss. These patients were heterozygous for one of the common mutations 167delT or 35delG in the GJB2 gene in tr