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Article

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.

Human molecular genetics - 22 Jul 2000

Kmoch S, Brynda J, Asfaw B, Bezouska K, Novák P, Rezácová P, Ondrová L, Filipec M, Sedlácek J, Elleder M

Abstract excerpt

We describe a 5-year-old boy with a unique congenital cataract caused by deposition of numerous birefringent, pleiochroic and macroscopically prismatic crystals. Crystal analysis with subsequent automatic Edman degradation and matrix-associated laser desorption ionization time-of-flight mass spectrometry have identified the crystal-forming protein as gammaD-crystallin (CRYGD) lacking the N-terminal methionine....

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Source

Identifiers

PMID: 10915766
DOI: 10.1093/hmg/9.12.1779

Genes

CRYGD

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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