Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex

American Journal of Human Genetics

Volumn 92, Issue 1, 2013, Pages 81-87

  Pasternack, Sandra M ^a   Refke, Melanie ^a   Paknia, Elham ^b   Hennies, Hans Christian ^c,d,e   Franz, Thomas ^a   Schäfer, Niklas ^a   Fryer, Alan ^f   Van Steensel, Maurice ^g,h   Sweeney, Elizabeth ^f   Just, Miquel ⁱ   Grimm, Clemens ^b   Kruse, Roland ^j   Ferrándiz, Carlos ⁱ   Nöthen, Markus M ^a   Fischer, Utz ^b   Betz, Regina C ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e UNIVERSITY OF COLOGNE   (Germany)

^f ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^h MAASTRICHT UNIVERSITY   (Netherlands)

ⁱ HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^j Dermatological Practice   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SMALL NUCLEAR RIBONUCLEOPROTEIN; SNRPE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; CODON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HAIR FOLLICLE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS SIMPLEX; IMMUNOFLUORESCENCE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SPLICEOSOME; TUNISIA; WESTERN BLOTTING; WILD TYPE;

FEMALE; GENETIC LINKAGE; HUMANS; HYPOTRICHOSIS; MALE; MUTATION; PEDIGREE; SNRNP CORE PROTEINS; SPLICEOSOMES;

EID: 84872335060     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.022     Document Type: Article

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