Literature DB >> 8504552

Novel homozygous mutation of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.

Y Takarada, K Yamashita, N Ohtsuka, S Kagawa, A Matsuoka.   

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Year:  1993        PMID： 8504552

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  1 in total

1.  Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.

Authors:  L A Tyfield; J Zschocke; A Stephenson; F Cockburn; A Harvie; J L Bidwell; N A Wood; L P Hunt
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318
  1 in total

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