Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations-Reference-Cited by-同舟云学术

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

Published:2010-02-11 Issue:3 Volume:78 Page:236-246
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Hofer D,Paul K,Fantur K,Beck M,Roubergue A,Vellodi A,Poorthuis BJ,Michelakakis H,Plecko B,Paschke E

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01379.x/fullpdf

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3. The 67-kD elastin/ laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase;Hinek;J Clin Invest,1993

4. The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein;Privitera;J BiolChem,1998

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