A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

Open Access

1 August 2004

journal article
other
Published by BMJ in Journal of Medical Genetics

Vol. 41 (8) , e106
https://doi.org/10.1136/jmg.2004.018333

Abstract

We used a linkage approach to investigate these 13 genes and five loci in a large pedigree from Victoria, Australia, with zonular pulverulent cataract with the aim of identifying the causative mutation.

Keywords

ADCC
AUTOSOMAL DOMINANT CONGENITAL CATARACT
BFSP2
BEADED FILAMENT STRUCTURAL PROTEIN-2
HSF4
HEAT SHOCK FACTOR-4
MIP
MAJOR INTRINSIC PROTEIN
PITX3
PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR-3
CONNEXIN
GAP JUNCTION
GENETIC
LENS
PAEDIATRIC

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