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Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity
Author(s) -
Dianzani Irma,
Knappskog Per M.,
de Sanctis Luisa,
Giannattasio Sergio,
Riva Enrica,
Ponzone Alberto,
Apold Jaran,
Camaschella Clara
Publication year - 1995
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.1380060308
Subject(s) - missense mutation , phenylalanine hydroxylase , humanities , mutation , pediatrics , medicine , biology , genetics , gene , philosophy , phenylalanine , amino acid
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