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Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene
Author(s) -
Titomanlio L.,
De Brasi D.,
Buoninconti A.,
Sperandeo M.P.,
Pepe A.,
Andria G.,
Sebastio G.
Publication year - 2004
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.0009-9163.2004.00204.x
Subject(s) - nonsense mutation , citation , library science , nonsense , medicine , genetics , pediatrics , mutation , biology , gene , computer science , missense mutation