A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
about
Pituitary transcription factors: from congenital deficiencies to gene therapyAnalysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.Rieger syndrome with multiple chromosomal breaks and chromosome 4 deletion.Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development.The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
P2860
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P2860
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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name
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
@en
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
@nl
type
label
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
@en
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
@nl
prefLabel
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
@en
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
@nl
P2093
P2860
P1433
P1476
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
@en
P2093
Brian P Brooks
Catherine A Downs
Julia E Richards
Mohammad I Othman
Sayoko E Moroi
Shannon Wiltse
P2860
P356
10.1076/OPGE.25.1.57.29002
P577
2004-03-01T00:00:00Z