𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A large german kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene

✍ Scribed by Benedikt G. H. Schoser; J. Michael Schröder; Timo Grimm; Damien Sternberg; Wolfram Kress


Book ID
102533796
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
364 KB
Volume
35
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel mutation in the KCNQ4 gene in a la
✍ Zohreh Talebizadeh; Philip M. Kelley; James W. Askew; Kirk W. Beisel; Shelley D. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 407 KB 👁 2 views

Analysis of genotyping of a five-generation American family with nonsyndromic dominant progressive hearing loss indicated linkage to the DFNA2 locus on chromosome 1p34. This kindred consists of 170 individuals, of which 51 are affected. Pure tone audiograms, medical records, and blood samples were o