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Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes
Author(s) -
ÁlvarezSatta M.,
CastroSánchez S.,
Pereiro I.,
PiñeiroGallego T.,
Baiget M.,
Ayuso C.,
Valverde D.
Publication year - 2014
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/cge.12334
Subject(s) - bardet–biedl syndrome , genetics , identification (biology) , gene , biology , mutation , phenotype , botany