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Article

Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

Molecular vision - 27 Aug 2007

Bagiyeva Sefayet, Marfany Gemma, Gonzalez-Angulo Olga, Gonzalez-Duarte Roser

Abstract excerpt

PURPOSE: To investigate the genetic basis of primary congenital glaucoma (PCG) in a collection of Turkish patients and to assess the pathogenicity of two novel alleles. METHODS: Intragenic single nucleotide polymorphisms (SNPs) genotyping and mutational screening of CYP1B1, the major PCG causing gene, were performed by PCR amplification and sequencing. PCG cases with either none or a single heterozygous mutation...

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Identifiers

PMID: 17893647

Genes

MYOC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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