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Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

We report missense mutations associated with haplotype 1 and haplotype 4 alleles of the human phenylalanine hydroxylase (PAH) gene. Individual exon-containing regions were amplified by polymerase chain reaction from genomic DNA of a PKU patient who was a haplotype 1/4 compound heterozygote. The ampl...

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Detalhes bibliográficos
Main Authors: Okano, Y, Wang, T, Eisensmith, R C, Steinmann, B, Gitzelmann, R, Woo, S L
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683547/
https://ncbi.nlm.nih.gov/pubmed/1967207
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