A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.

Kobayashi, H; Kasahara, M; Hino, M; Yoshimura, H; Takahara, S; Ikeda, K; Son, C; Iwakura, T; Yoshimoto, A; Ishihara, T; Ogawa, Y

Kobayashi, H; Kasahara, M; Hino, M; Yoshimura, H; Takahara, S; Ikeda, K; Son, C; Iwakura, T; Yoshimoto, A; Ishihara, T; Ogawa, Y.

J Endocrinol Invest ; 29(9): 851-3, 2006 Oct.

Article in En | MEDLINE | ID: mdl-17114920

Subject(s)

Deafness/genetics; GATA3 Transcription Factor/genetics; Hypoparathyroidism/genetics; Multicystic Dysplastic Kidney/genetics; Adolescent; Adult; Asian People/genetics; Base Sequence; DNA Mutational Analysis; Female; Frameshift Mutation; Gene Deletion; Humans; Male; Middle Aged; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Multicystic Dysplastic Kidney / Deafness / GATA3 Transcription Factor / Hypoparathyroidism Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: J Endocrinol Invest Year: 2006 Document type: Article Country of publication: Italy

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