๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Exon 2 of human cathepsin B derives from an Alu element

โœ Scribed by Isabelle M Berquin; Mamoun Ahram; Bonnie F Sloane

Book ID
117108520
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
577 KB
Volume
419
Category
Article
ISSN
0014-5793

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Rare mutations of FGFR2 causing apert sy
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily
โœ Elena G. Bochukova; Tony Roscioli; Dale J. Hedges; Indira B. Taylor; David Johns ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 351 KB

Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function substitutions (Ser252Trp and Pro253Arg) in exon IIIa of fibroblast growth factor receptor 2 (FGFR2) are responsible for 498% of cases. Here we d