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Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria
Author(s) -
Zygulska Marta,
Eigel Antonin,
Pietrzyk Jacek J.,
Horst Jürgen
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020314
Subject(s) - phenylalanine hydroxylase , biology , intron , genetics , german , splice , gene , mutation , phenylalanine , amino acid , history , archaeology
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