Novel mutatons and diverse clinical phenotypes in recombnase-activating gene 1 deficiency

Italian Journal of Pediatrics

Volumn 38, Issue 1, 2012, Pages

  Kutukculer, Necil ^a   Gulez, Nesrin ^a   Karaca, Neslihan Edeer ^a   Aksu, Guzide ^a   Berdeli, Afig ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

BCG; Immunodeficiency; Recombinase activating genes

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; CORRELATION ANALYSIS; ENVIRONMENTAL FACTOR; EPIGENETICS; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNOLOGICAL PARAMETERS; INFANT; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OMENN SYNDROME; PRESCHOOL CHILD; RECOMBINASE ACTIVATING GENE 1 DEFICIENCY; RECURRENT INFECTION; SEVERE COMBINED IMMUNODEFICIENCY; TURKEY (REPUBLIC); ADULT; B LYMPHOCYTE; CLASSIFICATION; GENE; GENETIC EPIGENESIS; GENETICS; GENOTYPE; IMMUNOLOGY; MUTATION; PHENOTYPE; T LYMPHOCYTE;

BCG VACCINE;

ADULT; B-LYMPHOCYTES; BCG VACCINE; CONSANGUINITY; EPIGENESIS, GENETIC; FEMALE; GENES, RAG-1; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; TURKEY;

EID: 84863216854     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/1824-7288-38-8     Document Type: Article

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