Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome

Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family. The majority of patients in this family are homozyg...

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Библиографические подробности
Главные авторы: Coucke, P, Van Hauwe, P, Everett, L, Demirhan, O, Kabakkaya, Y, Dietrich, N, Smith, R, Coyle, E, Reardon, W, Trembath, R, Willems, P, Green, E, Van Camp, G
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 1999
Предметы:
Short Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734383/
https://ncbi.nlm.nih.gov/pubmed/10874637
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