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Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose‐1‐phosphate uridyltransferase (GALT) deficiency
Author(s) -
Maceratesi Patrizia,
Sangiuolo Federica,
Novelli Giuseppe,
Ninfali Paolino,
Magnani Mauro,
Reichardt Juergen K.V.,
Dallapiccola Bruno
Publication year - 1996
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/(sici)1098-1004(1996)8:4<369::aid-humu12>3.0.co;2-0
Subject(s) - biology , genetics , mutation , humanities , gene , philosophy