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Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria
Author(s) -
Bénit Paule,
Rey Françoise,
Melle Dominique,
Munnich Arnold,
Rey Jean
Publication year - 1994
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.1380040311
Subject(s) - missense mutation , phenylketonurias , phenylalanine hydroxylase , humanities , mutation , biology , genetics , gene , philosophy , phenylalanine , amino acid