The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

Genome-wide linkage analysis, followed by targeted deep sequencing, in a Danish multigeneration family with juvenile cataract revealed a region of chromosome 17 co-segregating with the disease trait. Affected individuals were heterozygous for two potentially protein-disrupting alleles in this region...

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Bibliografiska uppgifter
Huvudupphovsmän: Hansen, Lars, Comyn, Sophie, Mang, Yuan, Lind-Thomsen, Allan, Myhre, Layne, Jean, Francesca, Eiberg, Hans, Tommerup, Niels, Rosenberg, Thomas, Pilgrim, David
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2014
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4200433/
https://ncbi.nlm.nih.gov/pubmed/24549050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.21
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