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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Kalaydjieva, L, Dworniczak, B, Aulehla-Scholz, C, Kremensky, I, Bronzova, J, Eigel, A, Horst, J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1990
Assuntos:
Research Article
Acesso em linha: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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