Functional analysis of human mutations in homeodomain transcription factor PITX3

BACKGROUND: The homeodomain-containing transcription factor PITX3 was shown to be essential for normal eye development in vertebrates. Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and micro...

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Bibliografiska uppgifter
Huvudupphovsmän: Sakazume, Satoru, Sorokina, Elena, Iwamoto, Yoshiki, Semina, Elena V
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2007
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2093940/
https://ncbi.nlm.nih.gov/pubmed/17888164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2199-8-84
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