A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset
ConclusionsThe described mutation leads to elongation of the protein at the carboxi ‐terminal domain (CTD) with altered properties, which are essential for solubility and activity. It suggests that can be the cause of the severe conditions observed in this patient.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Ana T. Marcos,
Diego Amor ós,
Beatriz Muñoz-Cabello,
Francisco Galán,
Eloy Rivas Infante,
Luis Alcaraz‐Mas,
José M. Navarro‐Pando Tags: CLINICAL REPORT Source Type: research
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