Article
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2006
Carroll Pamela, Al-Mojalli Hamad, Al-Abbad Abbas, Al-Hassoun Ibrahim, Al-Hamed Mohamed, Al-Amr Rana, Butt Abdul Islam, Meyer Brian Francis
Abstract excerpt
PURPOSE: Nephrogenic Diabetes Insipidus (NDI) is genetically heterogeneous and may be inherited in an X-linked or autosomal recessive manner. We aimed to investigate the molecular basis of NDI among Arab families. METHODS: Direct sequencing of coding regions for AQP2 and AVPR2 was used to identify underlying mutations. One large deletion required Southern blot analysis and a PCR-based strategy to identify...
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