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Novel splice‐site mutation c.1615‐2A>G (IVS14‐2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family
Author(s) -
SimõesTeixeira Helena,
Matos Tiago D.,
Marques Marta Canas,
Dias Óscar,
Andrea Mário,
Barreiros Eduardo,
Barreiros Luís,
Moreno Felipe,
Fialho Graça,
Caria Helena,
del Castillo Ignacio
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33740
Subject(s) - medicine , humanities , portuguese , art , philosophy , linguistics
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