The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
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PAX6 gene variations associated with aniridia in south IndiaThe molecular basis of malonyl-CoA decarboxylase deficiency.The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian familiesAnterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.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 in Mexican patients with congenital aniridia: report of four novel mutations.A review of the clinical and genetic aspects of aniridia.A new set of primers for mutation analysis of the human PAX6 gene.Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India.Novel PAX6 mutation reported in an aniridia patient.PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
P2860
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P2860
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
description
1997 nî lūn-bûn
@nan
1997 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
The incidence of PAX6 mutation ...... utation detection in 12 cases.
@ast
The incidence of PAX6 mutation ...... utation detection in 12 cases.
@en
type
label
The incidence of PAX6 mutation ...... utation detection in 12 cases.
@ast
The incidence of PAX6 mutation ...... utation detection in 12 cases.
@en
prefLabel
The incidence of PAX6 mutation ...... utation detection in 12 cases.
@ast
The incidence of PAX6 mutation ...... utation detection in 12 cases.
@en
P2093
P2860
P356
P1476
The incidence of PAX6 mutation ...... mutation detection in 12 cases
@en
P2093
P2860
P304
P356
10.1136/JMG.34.4.279
P407
P577
1997-04-01T00:00:00Z