Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single ?Gaucher gene?-Reference-Cited by-同舟云学术

Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single ?Gaucher gene?

Published:1983-12 Issue:2 Volume:65 Page:112-116
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Gravel R. A.,Leung A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00286645.pdf

Reference16 articles.

1. Conzelmann E, Sandhoff K (1978) AB variant of infantile GM2 gangliosidosis: Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proc Natl Acad Sci USA 75:3979?3983

2. Furbish FS, Blair HE, Shiloach J, Pentchev PG, Brady RO (1977) Enzyme replacement thereby in Gaucher's disease: Large-scale purification of glucocerebrosidase suitable for human administration. Proc Natl Acad Sci USA 74:3560?3563

3. Ginns EI, Brady RO, Pirruccello S, Moore C, Sorrell S, Furbish FS, Murray GJ, Tager J, Barranger JA (1982) Mutations of glucocerebrosidase: Discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci USA 79: 5607?5610

4. Gravel RA, Lam K-F, Scully KJ, Hsia YE (1977) Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet 29:378?388

5. Gravel RA, Leung A, Saunders M, Hosli P (1979a) Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons. Proc Natl Acad Sci USA 76:6520?6524

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