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Article

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

Molecular vision - 19 Jun 2007

Pauli Silke, Söker Torben, Klopp Norman, Illig Thomas, Engel Wolfgang, Graw Jochen

Abstract excerpt

PURPOSE: The study demonstrates the functional candidate gene analysis in a cataract family of German descent. METHODS: We screened a German family, clinically documented to have congenital cataracts, for mutation in the candidate genes CRYG (A to D) and CRYBB2 through polymerase chain reaction a...

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Identifiers

PMID: 17653036
PMCID: PMC2774456

Genes

CRYBB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17653036-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.PMID 17653036Read ↗

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A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.Semantic proximity Read ↗

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Homozygous<i>CRYBB1</i>Deletion Mutation Underlies Autosomal Recessive Congenital CataractSemantic proximity Read ↗

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