Identification of a novel insertion mutation in GATA3 with HDR syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-03

AUTHORS

Yukari Mino, Takashi Kuwahara, Toshifumi Mannami, Keisuke Shioji, Koh Ono, Naoharu Iwai

ABSTRACT

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. More... »

PAGES

58-61

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10157-004-0327-6

DOI

http://dx.doi.org/10.1007/s10157-004-0327-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007128297

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15830275


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