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Paper Details

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Hum Genet
43
2007
ACHM, Achromatopsia, CNGA3, CNGB3, CNGB3 mutation, CNGB3 p, CNGB3 p., UPD, achromatopsia, alleles, chromosome 14, chromosome 8, cone photoreceptor, cyclic nucleotide-gated cation channel, intragenic, maternal isodisomy for chromosome 14, nucleotide, p.A621E, p.R223G, patient, patients, pendular infantile nystagmus, photodysphoria, retinal disorder, rod monochromacy, transducin--GNAT2, uniparental disomy, uniparental disomy 14
Author NameAffiliation
Wojciech WiszniewskiBaylor College of Medicine
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Release 1.2