✦ LIBER ✦

Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family

✍ Scribed by Kaoru Akimoto; Michiko Furutani; Shin-Ichiro Imamura; Yoshiyuki Furutani; Hiroshi Kasanuki; Atsuyoshi Takao; Kazuo Momma; Dr. Rumiko Matsuoka

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 227 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380110159

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New missense mutation (G626V) in the pre

New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome

✍ Sabine Jahr; Thorsten Lewalter; Rolf-Dieter Hesch; Berndt Lüderitz; Sabine Engli 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views

Novel missense mutation in the cyclic nu

Novel missense mutation in the cyclic nucleotide-binding domain ofHERG causes long QT syndrome

✍ Satler, Carol Ann; Walsh, Edward P.; Vesely, Mark R.; Plummer, Mark H.; Ginsburg 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 917 KB

A de novo missense mutation (R1623Q) of

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome

✍ Hiroyuki Yamagishi; Michiko Furutani; Mitsuhiro Kamisago; Yoshiyuki Morikawa; Yo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c

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

Bradycardia-induced long QT syndrome cau

Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop ofHERG

✍ Yoshida, Hidetada ;Horie, Minoru ;Otani, Hideo ;Kawashima, Tetsuya ;Onishi, Yosh 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 157 KB 👁 2 views

A novel missense mutation Ile59Asn in th

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1

✍ T.G. Markova; S.P. Shevtsov; L.N. Moskolenko; A.A. Lantsov; E.I. Schwartz 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views