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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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| Main Authors: | , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1975
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1762783/ https://ncbi.nlm.nih.gov/pubmed/1155451 |
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