Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3. This dual zinc finger transcription factor binds DNA with its C-terminal zinc finger (ZnF2) and stabilize...

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Những tác giả chính: Zahirieh, A, Nesbit, M, Ali, A, Wang, K, He, N, Stangou, M, Bamichas, G, Sombolos, K, Thakker, R, Pei, Y
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: 2005