[PDF][PDF] Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort
CG Picanço‑Albuquerque, TO dos Anjos… - 2018 - bmcresnotes.biomedcentral.com
Objective: Hereditary hearing loss (HL) is the most common sensorineural disorder in
humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 …
humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 …
Silvia Dossena, Emanuele Bernardinelli, Alok K. Sharma
SL Alper, M Paulmichl - The Role of Pendrin in Health and - Springer
Abstract Pendrin (SLC26A4) is an electroneutral anion exchanger in which functionaltering
mutations cause inherited forms of non-syndromic (DFNB4) and syndromic deafness …
mutations cause inherited forms of non-syndromic (DFNB4) and syndromic deafness …
Functional and molecular characterization of pendrin, the anion exchanger involved in Pendred syndrome, non-syndromic deafness and respiratory distresses.
E Bernardinelli - 2015 - air.unimi.it
Pendrin is an anion exchanger with affinity for several monovalent anions including iodide,
chloride and bicarbonate. It is expressed in the inner ear, thyroid and kidney and more …
chloride and bicarbonate. It is expressed in the inner ear, thyroid and kidney and more …
[图书][B] Role of ion exchangers in secretion by human airway epithelium
J Huang - 2015 - search.proquest.com
Transepithelial fluid and ion secretion play a vital role in airway epithelial functions,
including mucus secretion and ciliary beating, yet the mechanisms which mediate the …
including mucus secretion and ciliary beating, yet the mechanisms which mediate the …
[PDF][PDF] Estudo molecular em indivíduos surdos com diagnóstico genético indefinido
SM da Silva Costa - 2013 - repositorio.unicamp.br
À Profa. Dra. Edi Lucia Sartorato pelas oportunidades, orientação e confiança. Durante
estes anos tem contribuído para o meu aprendizado bem como muito, muito sobre a vida …
estes anos tem contribuído para o meu aprendizado bem como muito, muito sobre a vida …
[引用][C] Nonsendromik konjenital işitme kayıplarıyla ilişkili gen mutasyonlarının DNA mikroarray tekniği ile incelenmesi
T Çelik - platform.almanhal.com
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[引用][C] Unraveling the genetic background of disease in Austrian hearing loss patients using traditional and next generation DNA sequencing
T Lucas