Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit-Reference-Cited by-同舟云学术

Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit

Published:2004-11 Issue:6 Volume:27 Page:747-756
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sinici İ.,Tropak M. B.¹,Mahuran D. J.¹,Özkara H. A.

Affiliation:

1. ; Research Institute; The Hospital for Sick Children; Toronto Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000045759.12935.76/fullpdf

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4. b Hexosaminidase isozymes from cells co-transfected with a and b cDNA constructs: Analysis of a subunit missense mutation associated with the adult form of TaySachs disease;Brown;Am J Hum Genet,1993

5. Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders;Butters;Phil Trans R Soc Lond B Biol Sci,2003

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1. Comparison of HCMV IE and EF-1 Promoters for the Stable Expression of β-Subunit of Hexosaminidase in CHO Cell Lines;Biochemical Genetics;2006-04-28

2. Molecular analysis of theHEXAgene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles;Human Mutation;2005-09