Literature DB >> 8364593

Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.

M Zygulska1, A Eigel, J J Pietrzyk, J Horst.   

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Year:  1993        PMID： 8364593     DOI： 10.1002/humu.1380020314

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.

Authors:  Reza Alibakhshi; Keyvan Moradi; Zahra Mohebbi; Keyghobad Ghadiri
Journal:  Metab Brain Dis       Date:  2013-09-19       Impact factor: 3.584

2.  Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.

Authors:  Jessica Scott Schwoerer; Nicoletta Drilias; Ashley Kuhl; Sean Mochal; Mei Baker
Journal:  Mol Genet Metab Rep       Date:  2018-03-08
  2 in total

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