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

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 924-927

  Simões Teixeira, Helena ^a,b   Matos, Tiago D ^a   Marques, Marta Canas ^c   Dias, Óscar ^c   Andrea, Mário ^c   Barreiros, Eduardo ^c   Barreiros, Luís ^c   Moreno, Felipe ^b,d   Fialho, Graça ^a   Caria, Helena ^a,e   del Castillo, Ignacio ^b,d  

^a UNIVERSITY OF LISBON   (Portugal)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c HOSPITAL DE SANTA MARIA   (Portugal)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e INSTITUTO POLITÉCNICO DE SETÚBAL   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOIDECTOMY; ADOLESCENT; ADULT; AUDIOMETRY; CASE REPORT; CHILD; CONDUCTION DEAFNESS; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HEARING AID; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MALE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PORTUGAL; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SLC26A4 GENE; SPEECH DISORDER; SPEECH THERAPY;

BASE SEQUENCE; CHILD; CONSANGUINITY; GOITER, NODULAR; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; PORTUGAL; RNA SPLICE SITES; VESTIBULAR AQUEDUCT; YOUNG ADULT;

EID: 79953305460     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33740     Document Type: Letter

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