The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

Journal of Human Genetics

Volumn 59, Issue 12, 2014, Pages 691-693

  Nakashima, Mitsuko ^a   Miyajima, Masakazu ^b   Sugano, Hidenori ^b   Iimura, Yasushi ^b   Kato, Mitsuhiro ^c   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Arai, Hajime ^b   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JUNTENDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; GUANINE NUCLEOTIDE BINDING PROTEIN Q POLYPEPTIDE ALPHA; UNCLASSIFIED DRUG;

ALLELE; AMPLICON; ARTICLE; BLOOD BRAIN BARRIER; BRAIN TISSUE; CHILD; CLINICAL ARTICLE; COMPLEX PARTIAL SEIZURE; EXON; FACE; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; GNAQ GENE; HEREDITY; HUMAN; LEFT HEMISPHERE; MALE; NEVUS FLAMMEUS; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; RECURRENT DISEASE; RIGHT HEMISPHERE; SCHOOL CHILD; SOMATIC MUTATION; STURGE WEBER SYNDROME;

EID: 84927158309     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.95     Document Type: Article

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