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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Autors principals: Paglia, D E, Paredes, R, Valentine, W N, Dorantes, S, Konrad, P N
Format: Artigo
Idioma:Inglês
Publicat: 1975
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762783/
https://ncbi.nlm.nih.gov/pubmed/1155451
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