๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A novel intronic mutation of theTAZ(G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

โœ Scribed by Osamu Sakamoto; Toshihiro Ohura; Yuriko Katsushima; Ikuma Fujiwara; Eishin Ogawa; Shigeaki Miyabayashi; Kazuie Iinuma


Publisher
Springer
Year
2001
Tongue
English
Weight
150 KB
Volume
109
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Two novel mutant alleles of the gene enc
โœ Marek Bodzioch; Katarzyna Lapicka; Charalampos Aslanidis; Marek Kacinski; Gerd S ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 34 KB ๐Ÿ‘ 3 views

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam