Enrichment of rare variants in population isolates: Single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

European Journal of Human Genetics

Volumn 24, Issue 10, 2016, Pages 1473-1478

  Trotta, Luca ^a   Hautala, Timo ^b   Hämäläinen, Sari ^c   Syrjänen, Jaana ^d   Viskari, Hanna ^d,e   Almusa, Henrikki ^a   Lepisto, Maija ^a   Kaustio, Meri ^a   Porkka, Kimmo ^f   Palotie, Aarno ^a,g   Seppänen, Mikko ^f,h   Saarela, Janna ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d TAMPERE UNIVERSITY HOSPITAL   (Finland)

^e TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^h UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE); CYTIDINE DEAMINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FINLAND; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HYPER IGM IMMUNODEFICIENCY SYNDROME TYPE 2; HYPER IGM SYNDROME; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SOMATIC HYPERMUTATION; ADULT; FOUNDER EFFECT; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HYPER-IGM IMMUNODEFICIENCY SYNDROME; INFANT; MUTATION; PEDIGREE;

ADULT; CHILD; CYTIDINE DEAMINASE; FEMALE; FINLAND; FOUNDER EFFECT; GENE FREQUENCY; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; INFANT; MALE; MUTATION; PEDIGREE;

EID: 84965029323     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.37     Document Type: Article

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