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
收藏
页码：924 / 927
页数：4
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