Mutations in POGLUT1, encoding protein o-glucosyltransferase 1, cause autosomal-dominant dowling-degos disease

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 135-143

  Basmanav, F Buket ^a   Oprisoreanu, Ana Maria ^a   Pasternack, Sandra M ^a   Thiele, Holger ^b   Fritz, Günter ^c   Wenzel, Jörg ^a   Größer, Leopold ^d   Wehner, Maria ^a   Wolf, Sabrina ^a   Fagerberg, Christina ^e   Bygum, Anette ^e   Altmüller, Janine ^b   Rütten, Arno ^f   Parmentier, Laurent ^g   El Shabrawi Caelen, Laila ^h   Hafner, Christian ^d   Nürnberg, Peter ^b,i   Kruse, Roland ^j   Schoch, Susanne ^a   Hanneken, Sandra ^k   Betz, Regina C ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e ODENSE UNIVERSITY HOSPITAL   (Denmark)

^f Dermatopathologische Gemeinschaftspraxis   (Germany)

^g UNIVERSITY OF BERN   (Switzerland)

^h MEDICAL UNIVERSITY OF GRAZ   (Austria)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j Private Dermatology Practice   (Germany)

^k UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLTRANSFERASE; MEMBRANE PROTEIN; NOTCH RECEPTOR; PROTEIN POGLUT1; UNCLASSIFIED DRUG; O GLUCOSYLTRANSFERASE 1;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; DOWLING DEGOS DISEASE; ENDOPLASMIC RETICULUM; EPIDERMIS; GENE IDENTIFICATION; GENETIC SCREENING; HUMAN; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; MALIGNANT ATROPHIC PAPULOSIS; MUTATIONAL ANALYSIS; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SKIN BIOPSY; STOP CODON; WILD TYPE; ADULT; CHROMOSOME 3Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; EXON; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENODERMATOSIS; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN CELL; HUMAN TISSUE; HYPERPIGMENTATION; IMMUNOBLOTTING; INDEL MUTATION; LEUKOCYTE; MALE; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE;

EID: 84891758862     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.12.003     Document Type: Article

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