Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
Pera, Alejandra
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. [electronic resource] - Proceedings of the National Academy of Sciences of the United States of America Nov 2008 - 18608-13 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1091-6490
10.1073/pnas.0805831105 doi
Alleles
Amino Acid Sequence
Animals
Cell Line
Cohort Studies
Genes, Recessive
Genotype
Hearing Loss, Sensorineural--genetics
Humans
Membrane Transport Proteins--genetics
Molecular Sequence Data
Mutation
Open Reading Frames
Phenotype
Polymorphism, Genetic
Sequence Homology, Amino Acid
Sulfate Transporters
Syndrome
Vestibular Aqueduct--abnormalities
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. [electronic resource] - Proceedings of the National Academy of Sciences of the United States of America Nov 2008 - 18608-13 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1091-6490
10.1073/pnas.0805831105 doi
Alleles
Amino Acid Sequence
Animals
Cell Line
Cohort Studies
Genes, Recessive
Genotype
Hearing Loss, Sensorineural--genetics
Humans
Membrane Transport Proteins--genetics
Molecular Sequence Data
Mutation
Open Reading Frames
Phenotype
Polymorphism, Genetic
Sequence Homology, Amino Acid
Sulfate Transporters
Syndrome
Vestibular Aqueduct--abnormalities