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A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome

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Academic year: 2020

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Figure

Fig. 1 Plain head and abdominal computed tomography (CT) scansof the proband. a, b. Head CT
Fig. 2 Direct sequencing ofTA2) and 2 zinc finger domains (N-terminal zinc finger [ZnF1] and C-terminal zinc finger [ZnF2])
Fig. 4 Functional analysis of wild-type and mutant GATA3 proteins using awild-type and mutant GATA3 on the transcription activity of the heterologous promoter

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