Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Thirteen different heter...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Ali, A, Christie, P, Grigorieva, I, Harding, B, Van Esch, H, Ahmed, S, Bitner-Glindzicz, M, Blind, E, Bloch, C, Christin, P, Clayton, P, Gecz, J, Gilbert-Dussardier, B, Guillen-Navarro, E, Hackett, A, Halac, I, Hendy, G, Lalloo, F, Mache, C, Mughal, Z, Ong, A, Rinat, C, Shaw, N, Smithson, S, Tolmie, J
التنسيق: Journal article
اللغة:English
منشور في: 2007

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