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24 bp deletion and Ala 1278 to val mutation of the ATP7B gene in a Sardinian family with Wilson disease
Author(s) -
Orrù S,
Thomas G,
Loizedda A,
Cox DW,
Contu L
Publication year - 1997
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(1997)10:1<84::aid-humu14>3.0.co;2-w
Subject(s) - medical genetics , sick child , molecular genetics , medicine , genetics , family medicine , gerontology , pediatrics , biology , gene