PAX6 gene variations associated with aniridia in south India - Wikidata - wikimedia - TriplyDB

PAX6 gene variations associated with aniridia in south India

PAX6 gene variations associated with aniridia in south India

http://www.wikidata.org/entity/Q21261462

about

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Mutation spectrum of PAX6 in Chinese patients with aniridia.Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.

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P2860

PAX6 gene variations associated with aniridia in south India

http://www.wikidata.org/entity/Q21261462

description

2004 nî lūn-bûn

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2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2004 թվականի ապրիլին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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PAX6 gene variations associated with aniridia in south India

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BMC Medical Genetics

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PAX6 gene variations associated with aniridia in south India

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Guruswamy Neethirajan

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Periasamy Sundaresan

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Perumalsamy Vijayalakshmi

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Shetty Shashikant

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Subbaiah Ramasamy Krishnadas

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P2860

A simple salting out procedure for extracting DNA from human nucleated cells

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

Getting your Pax straight: Pax proteins in development and disease

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

PAX6 mutations in aniridia

PAX6 mutations reviewed

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

PAX6 mutations reviewed

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