Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family. By d...

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Main Authors: Pasternack, Sandra M., Refke, Melanie, Paknia, Elham, Hennies, Hans Christian, Franz, Thomas, Schäfer, Niklas, Fryer, Alan, van Steensel, Maurice, Sweeney, Elizabeth, Just, Miquel, Grimm, Clemens, Kruse, Roland, Ferrándiz, Carlos, Nöthen, Markus M., Fischer, Utz, Betz, Regina C.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542472/
https://ncbi.nlm.nih.gov/pubmed/23246290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.022
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