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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...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2093940/ https://www.ncbi.nlm.nih.gov/pubmed/17888164 http://dx.doi.org/10.1186/1471-2199-8-84 |