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Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.
RFLP haplotypes and common mutations in the phenylalanine hydroxylase gene have been studied in a group of 29 Bulgarian PKU families. Haplotype distribution differs from that in other European populations, with a predominance of haplotypes 2 and 6 and a total absence of haplotype 3. The amino acid s...
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| Publicado en: | J Med Genet |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Publishing Group
1990
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017277/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1981599/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.12.742 |
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