𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness

✍ Scribed by Shalev, Stavit A. ;Hujirat, Yasir


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
36 KB
Volume
124A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of mutations in the conne
✍ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 223 KB πŸ‘ 2 views

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc

A novel and de novo spontaneous point mu
✍ Tarantino, Michael D.; Curtis, Sharon M.; Johnson, G. Stephan; Waye, John S.; Bl πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 108 KB πŸ‘ 1 views

We describe a novel, de novo point mutation in one antithrombin (AT) allele resulting in type I AT deficiency and thrombophilia. Low plasma AT activity as well as low plasma AT antigen were documented in the propositus, but not in the parents, or in a male sibling. AT gene analysis by sequencing pol