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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2013
Fag:
Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker