Triosephosphate isomerase deficiency: Repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families-Reference-Cited by-同舟云学术

Triosephosphate isomerase deficiency: Repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families

Published:1995-12 Issue:4 Volume:50 Page:263-268
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am. J. Hematol.

Author:

Schneider Arthur,Westwood Beryl,Yim Catherine,Prchal Josef,Berkow Roger,Labotka Richard,Warrier Rajasekharan,Beutler Ernest

Funder

National Institutes of Health

Publisher

Wiley

Subject

Hematology

Reference19 articles.

1. Hereditary hemolytic anemia with triosephosphate isomerase deficiency;Schneider;N Engl J Med,1965

2. Hereditary hemolytic anemia with triosephosphate isomerase deficiency: Studies in kindreds with coexistent sickle cell trait and erythrocyte glucose-6-phosphate dehydrogenase deficiency;Valentine;Am J Med,1966

3. Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family;Brown;Mol Cell Biol,1985

4. Human triosephosphate iosmerase deficiency: A single amino acid substitution results in a thermolabile enzyme;Daar;Proc Natl Acad Sci USA,1986

5. New case of codon 104 (Glu → Asp) mutation in homozygous triose phosphate isomerase deficiency and possible prenatal diagnosis of this disease;Elouet;Blood [Suppl],1988

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