Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

American Journal of Human Genetics

Volumn 98, Issue 4, 2016, Pages 789-795

  Ayturk, Ugur M ^a,b   Couto, Javier A ^a   Hann, Steven ^a   Mulliken, John B ^a   Williams, Kaitlin L ^a   Huang, August Yue ^a,b   Fishman, Steven J ^a   Boyd, Theonia K ^a   Kozakewich, Harry P W ^a   Bischoff, Joyce ^a   Greene, Arin K ^a   Warman, Matthew L ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; FORMALDEHYDE; GLUTAMINE; MESSENGER RNA; GNA11 PROTEIN, HUMAN; GNAQ PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GNA11 GENE; GNAQ GENE; HEMANGIOMA; HUMAN; HUMAN TISSUE; INFANT; LIVER HEMANGIOMA; MALE; MARKER GENE; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; RNA SEQUENCE; SEQUENCE ANALYSIS; SKIN HEMANGIOMA; SOMATIC MUTATION; UVEA MELANOMA; GENETIC VARIATION; GENETICS; MELANOMA; PRESCHOOL CHILD; SIGNAL TRANSDUCTION; SKIN ABNORMALITIES; UVEAL NEOPLASMS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GTP-BINDING PROTEIN ALPHA SUBUNITS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GQ-G11; HEMANGIOMA; HUMANS; INFANT; MALE; MELANOMA; MUTATION, MISSENSE; RNA, MESSENGER; SEQUENCE ANALYSIS, RNA; SIGNAL TRANSDUCTION; SKIN ABNORMALITIES; UVEAL NEOPLASMS;

EID: 84964816836     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.03.009     Document Type: Article

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