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Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turki...
Gorde:
| Egile Nagusiak: | , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
1994
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049933/ https://ncbi.nlm.nih.gov/pubmed/8071980 |
| Etiketak: |
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