Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location. The disorder is characterized by total absence of color discrimination because retinal cone photoreceptors do not develop; systemic features do not occur. A 20-year-old whit...

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Autores principales: Pentao, L, Lewis, R A, Ledbetter, D H, Patel, P I, Lupski, J R
Formato: Artigo
Lenguaje:Inglês
Publicado: 1992
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682625/
https://ncbi.nlm.nih.gov/pubmed/1347967
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