TY  - GEN
AU  - Pera,Alejandra
AU  - Dossena,Silvia
AU  - Rodighiero,Simona
AU  - Gandía,Marta
AU  - Bottà,Guido
AU  - Meyer,Giuliano
AU  - Moreno,Felipe
AU  - Nofziger,Charity
AU  - Hernández-Chico,Concepción
AU  - Paulmichl,Markus
TI  - Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
SN  - 1091-6490
PY  - 2009///0107
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Animals
KW  - Cell Line
KW  - Cohort Studies
KW  - Genes, Recessive
KW  - Genotype
KW  - Hearing Loss, Sensorineural
KW  - genetics
KW  - Humans
KW  - Membrane Transport Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Open Reading Frames
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - Sequence Homology, Amino Acid
KW  - Sulfate Transporters
KW  - Syndrome
KW  - Vestibular Aqueduct
KW  - abnormalities
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1073/pnas.0805831105
ER  -