Unique phenotypic expression of glucosephosphate isomerase deficiency.

Studies of a Mexican kindred present evidence for a unique phenotype of erythrocyte glucosephosphate isomerase, GPI Valle Hermoso. The proband was apparently the homozygous recipient of a mutant autosomal allele governing production of an isozyme characterized by decreased activity, marked thermal i...

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Hlavní autoři: Paglia, D E, Paredes, R, Valentine, W N, Dorantes, S, Konrad, P N
Médium: Artigo
Jazyk:Inglês
Vydáno: 1975
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762783/
https://ncbi.nlm.nih.gov/pubmed/1155451
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