A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss

European Journal of Human Genetics

Volumn 16, Issue 8, 2008, Pages 888-896

  Pera, Alejandra ^a,b   Villamar, Manuela ^a,b   Viñuela, Antonio ^a,b   Gandía, Marta ^a,b   Medà, Carme ^c,d   Moreno, Felipe ^a,b   Hernández Chico, Concepción ^a,b  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

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

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^d Unidad de Prevención de Enfermedades del Oído   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ANION TRANSPORT PROTEIN; SLC26A4 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; EXON; FAMILY STUDY; FOUNDER EFFECT; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEARING LOSS; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN VARIANT; RECESSIVE GENE; SPAIN;

FAMILY; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; VESTIBULAR AQUEDUCT;

EID: 48249097878     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.30     Document Type: Article

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