Cole disease results from mutations in ENPP1

American Journal of Human Genetics

Volumn 93, Issue 4, 2013, Pages 752-757

  Eytan, Ori ^a,b   Morice Picard, Fanny ^c,d   Sarig, Ofer ^a   Ezzedine, Khaled ^c,d   Isakov, Ofer ^b   Li, Qiaoli ^e   Ishida Yamamoto, Akemi ^f   Shomron, Noam ^b   Goldsmith, Tomer ^a   Fuchs Telem, Dana ^a,b   Adir, Noam ^g   Uitto, Jouni ^e   Orlow, Seth J ^h   Taieb, Alain ^c,d   Sprecher, Eli ^a,b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c HÔPITAL SAINT ANDRÉ   (France)

^d UNIVERSITÉ DE BORDEAUX   (France)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f ASAHIKAWA MEDICAL COLLEGE   (Japan)

^g TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^h NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENCODING ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; INSULIN; PHOSPHODIESTERASE I; PROTEINASE ACTIVATED RECEPTOR 2; PYROPHOSPHATE; SOMATOMEDIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL DIFFERENTIATION; COLE DISEASE; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HETEROZYGOTE; HYPOPIGMENTATION; KERATINOCYTE; KERATODERMA; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SIGNAL TRANSDUCTION; SKIN CALCIFICATION;

EID: 84885316290     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.08.007     Document Type: Article

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