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Article

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

Molecular vision - 10 Sept 2010

Santhiya Sathiyavedu T, Kumar Ganesan Senthil, Sudhakar Pridhvi, Gupta Navnit, Klopp Norman, Illig Thomas, Söker Torben, Groth Marco, Platzer Matthias, Gopinath Puthiya M, Graw Jochen

Abstract excerpt

PURPOSE: The aim of the study was to resolve the genetic etiology in families having inherited cataracts. METHODS: Families afflicted with congenital/childhood cataracts were registered in Chennai and Orissa (India). Blood samples were collected from the probands and available family members. Selected functional candidate genes were amplified by polymerase chain reaction (PCR) and characterized by direct...

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Source

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Identifiers

PMID: 21031021
PMCID: PMC2956670

Genes

CRYBB2
GJA3
CRYGD
HSF4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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