๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A Novel Homozygous Mutation of PKLR Gene in a Pyruvate-Kinase-Deficient Korean Family

โœ Scribed by Park-Hah, Jeong Ok; Kanno, Hitoshi; Kim, Won Duck; Fujii, Hisaichi


Book ID
120064895
Publisher
S. Karger AG
Year
2005
Tongue
English
Weight
98 KB
Volume
113
Category
Article
ISSN
0001-5792

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Fifteen novel mutations in PKLR associat
โœ Richard van Wijk; Eric G. Huizinga; Annet C.W. van Wesel; Brigitte A. van Oirsch ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 284 KB

Pyruvate kinase (PK) deficiency is a rare disease but an important cause of hereditary nonspherocytic hemolytic anemia. The disease is caused by mutations in the PKLR gene and shows a marked variability in clinical expression. We report on the molecular characterization of 38 PK-deficient patients f

Congenital insensitivity to pain with an
โœ Yasuhiro Indo; Sek Mardy; Yuichi Miura; Allie Moosa; Essam A.R. Ismail; Ennio To ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 477 KB

Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on