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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Identification of a novel insertion mutation in GATA3 with HDR syndrome.

Recently, a member of the GATA- binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome. We report here a Japanese family in which two of the members are affected with HDR syndrome. Sequence analysis of GATA3 showed a heterozygous novel mutation in this family: an unusual mutation at exon 3 (709insC) resulting in a premature stop at codon 302 with a loss of both of the zinc finger domains.[1]

References

  1. Identification of a novel insertion mutation in GATA3 with HDR syndrome. Mino, Y., Kuwahara, T., Mannami, T., Shioji, K., Ono, K., Iwai, N. Clin. Exp. Nephrol. (2005) [Pubmed]
 
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