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

被引：3

作者：

Simoes-Teixeira, Helena ^{[1
,2
]}

Matos, Tiago D. ^{[1
]}

Marques, Marta Canas ^{[3
]}

Dias, Oscar ^{[3
]}

Andrea, Mario ^{[3
]}

Barreiros, Eduardo ^{[4
]}

Barreiros, Luis ^{[4
]}

Moreno, Felipe ^{[2
,5
]}

Fialho, Graca ^{[1
]}

Caria, Helena ^{[1
,6
]}

del Castillo, Ignacio ^{[2
,5
]}

机构：

[1] Univ Lisbon, Fac Sci, Ctr Biodivers Funct & Integrat Genom BioFIG, P-1699 Lisbon, Portugal

[2] Hosp Univ Ramon y Cajal, IRYCIS, Unidad Genet Mol, Madrid, Spain

[3] Hosp Santa Maria, Ctr Hosp Lisboa Norte, EPE, ORL Serv, Lisbon, Portugal

[4] Hosp Santa Maria, Ctr Hosp Lisboa Norte, EPE, Dept Endocrinol, Lisbon, Portugal

[5] Ctr Invest Biomed Red Enfermedade Raras CIBERER, Madrid, Spain

[6] Polytech Inst, Higher Sch Hlth, Setubal, Portugal

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 04期

关键词：

SULFATE TRANSPORTER; HEARING-LOSS; PDS; PROVIDES; DEAFNESS; PROTEIN; IODIDE; DOMAIN; DFNB4;

D O I：

10.1002/ajmg.a.33740

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：924 / 927

页数：4

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Novel Splice-Site Mutation c.1615-2A&gt;G (IVS14-2A&gt;G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family

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