Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

New England Journal of Medicine

Volumn 368, Issue 21, 2013, Pages 1971-1979

  Shirley, Matthew D ^a,b   Tang, Hao ^c   Gallione, Carol J ^c   Baugher, Joseph D ^a,b   Frelin, Laurence P ^b   Cohen, Bernard ^a   North, Paula E ^d   Marchuk, Douglas A ^c   Comi, Anne M ^a,b   Pevsner, Jonathan ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; DNA; GENOMIC DNA; GLUTAMINE; GUANINE; MITOGEN ACTIVATED PROTEIN KINASE;

ALLELE; AMPLICON; ARTICLE; CEREBROVASCULAR MALFORMATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; NEVUS FLAMMEUS; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; STURGE WEBER SYNDROME;

EID: 84877957142     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1213507     Document Type: Article

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