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

H Simões‐Teixeira, TD Matos… - American Journal of …, 2011 - Wiley Online Library
Pendred syndrome (PDS; OMIM# 274600) is an autosomal recessive disorder characterized
by bilateral sensorineural hearing loss with inner ear malformations and goiter, although the …
被引用次数：7 相关文章

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

H Simões-Teixeira, TD Matos, MC Marques… - American Journal of …, 2011 - europepmc.org
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred
syndrome in a consanguineous Portuguese family. - Abstract - Europe PMC Sign in | Create an …

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

H Simões-Teixeira, TD Matos… - … journal of medical …, 2011 - pubmed.ncbi.nlm.nih.gov
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred
syndrome in a consanguineous Portuguese family Novel splice-site mutation c.1615-2A>G …

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

H Simões‐Teixeira, TD Matos, MC Marques… - American Journal of …, 2011 - infona.pl
Novel splice‐site mutation c.1615‐2A>G (IVS14‐2A>G) in the SLC26A4 gene causing
Pendred syndrome in a consanguineous Portuguese family × Close The Infona portal uses …

[引用][C] Novel Splice-Site Mutation c. 1615-2A> G (IVS14-2A> G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family

H SIMOES-TEIXEIRA, TD MATOS… - American journal of …, 2011 - pascal-francis.inist.fr
Novel Splice-Site Mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 Gene Causing Pendred
Syndrome in a Consanguineous Portuguese Family CNRS Inist Pascal-Francis CNRS Pascal and …

[引用][C] Novel Splice-Site Mutation c. 1615-2A> G (IVS14-2A> G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family

H SIMOES-TEIXEIRA, TD MATOS… - American journal of …, 2011 - Wiley-Liss