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An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps
Author(s) -
Fanin M,
Benedicenti F,
Fritegotto C,
Nascimbeni AC,
Peterle E,
Stanzial F,
Cristofoletti A,
Castellan C,
Angelini C
Publication year - 2012
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.1399-0004.2012.01873.x
Subject(s) - genetic counseling , pediatrics , university hospital , psychology , medicine , family medicine , biology , genetics