Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

PURPOSE: To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. METHODS: An autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Meyer, Esther, Rahman, Fatimah, Owens, Jessica, Pasha, Shanaz, Morgan, Neil V., Trembath, Richard C., Stone, Edwin M., Moore, Anthony T., Maher, Eamonn R.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2009
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2684559/
https://ncbi.nlm.nih.gov/pubmed/19461930
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars