Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family-Reference-Cited by-同舟云学术

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family

Published:2003-02 Issue:1 Volume:45 Page:16-22
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatr Int

Author:

SINICI INCILAY,OZKARA H.ASUMAN,TOPCU MERAL,CILIV GONENC

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1442-200X.2003.01669.x/fullpdf

Reference28 articles.

1. Biochemical consequences of mutations causing the GM2 gangliosidoses

2. 2 RA Gravel, JTR Clark, MM Kaback, DJ Mahuran, and K. Sandhoff The GM2 gangliosidoses. In: Scriver CR, Beudet AL, Sly WAS, Valle D (eds).The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, 1995; 2839-79.

3. A new variant of Type-AB GM2-gangliosidosis

4. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.

5. Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

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