Novel splice-site mutation c.1615-2A>G (IVS14-2A>G)...

American Journal of Medical Genetics Part A 2011 Vol. 155; Iss. 4

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

Helena Simões-Teixeira, Tiago D. Matos, Marta Canas Marques, Óscar Dias, Mário Andrea, Eduardo Barreiros, Luís Barreiros, Felipe Moreno, Graça Fialho, Helena Caria, Ignacio del Castillo
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Volume:
155
Year:
2011
Language:
english
Pages:
4
DOI:
10.1002/ajmg.a.33740
File:
PDF, 923 KB
english, 2011
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