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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 spec...

Topics

Alleles
Amino Acid Sequence
Cataract
Child, Preschool
Crystallins
Crystallography, X-Ray
Genetic Linkage
Humans
Lens, Crystalline
Male
Models, Molecular
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Protein Conformation

Sequence Analysis, DNA

Source

Identifiers

PMID: 10915766
DOI: 10.1093/hmg/9.12.1779

Genes

CRYGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-10915766-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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