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Phenylketonuria splice mutation (EXON6nt‐96Ag) masquerading as missense mutation (Y204C)
Author(s) -
Ellingsen Ståle,
Knappskog Per M.,
Eiken Hans Geir
Publication year - 1997
Publication title -
human mutation
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:1<88::aid-humu21>3.0.co;2-k
Subject(s) - medical genetics , university hospital , medicine , missense mutation , family medicine , genetics , mutation , biology , gene