Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

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作者信息

Pérez B, Desviat L R, García M J, Ugarte M

机构信息

Centro de Biologia Molecular, Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.

出版信息

J Inherit Metab Dis. 1994;17(3):377-8. doi: 10.1007/BF00711839.

DOI:10.1007/BF00711839

PMID:7807962

Abstract

摘要

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Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

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本文引用的文献

Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

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A new PKU mutation associated with haplotype 12.一种与单倍型12相关的苯丙酮尿症新突变。

Hum Mol Genet. 1992 Dec;1(9):765-6. doi: 10.1093/hmg/1.9.765.

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.人类苯丙氨酸羟化酶（PAH）基因座单倍型的更新列表。

Am J Hum Genet. 1992 Dec;51(6):1445-8.

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.苯丙氨酸羟化酶基因座上I65T和M1V突变的体外和体内相关性

Hum Mutat. 1992;1(2):147-53. doi: 10.1002/humu.1380010210.

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