Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland. Nonsyndromic EVA (ns-EVA) is a sepa...

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Vydané v:	Proceedings of the National Academy of Sciences - PNAS Ročník 105; číslo 47; s. 18608
Hlavní autori:	Pera, Alejandra, Dossena, Silvia, Rodighiero, Simona, Gandía, Marta, Bottà, Guido, Meyer, Giuliano, Moreno, Felipe, Nofziger, Charity, Hernández-Chico, Concepción, Paulmichl, Markus
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 25.11.2008
Predmet:	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 Syndrome Vestibular Aqueduct - abnormalities
ISSN:	1091-6490, 1091-6490
On-line prístup:	Zistit podrobnosti o prístupe
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