Novel mutations underlying nephrogenic diabetes insipidus in Arab families

Pamela Carroll,Hamad Al-Mojalli,Abbas Al-Abbad,Ibrahim Al-Hassoun,Mohamed Al-Hamed,Rana Al-Amr,Abdul Islam Butt,Brian F. Meyer

Novel mutations underlying nephrogenic diabetes insipidus in Arab families

2006

Pamela Carroll
Hamad Al-Mojalli
Abbas Al-Abbad
Ibrahim Al-Hassoun
Mohamed Al-Hamed
Rana Al-Amr
Abdul Islam Butt
Brian F. Meyer

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.

Keywords:

Medicine
Genetic heterogeneity
Nephrogenic diabetes insipidus
Dominance (genetics)
Internal medicine
Endocrinology
Diabetes mellitus
Aquaporin 2
Missense mutation
Coding region
Consanguinity
Genetics
Southern blot

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