Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

American Journal of Human Genetics

Volumn 97, Issue 3, 2015, Pages 389-403

  Fliegauf, Manfred ^a   L Bryant, Vanessa ^b,c   Frede, Natalie ^a   Slade, Charlotte ^b,c,d   Woon, See Tarn ^e   Lehnert, Klaus ^f   Winzer, Sandra ^a   Bulashevska, Alla ^a   Scerri, Thomas ^b,c   Leung, Euphemia ^g   Jordan, Anthony ^e   Keller, Baerbel ^a   De Vries, Esther ^h   Cao, Hongzhi ⁱ   Yang, Fang ⁱ   Schäffer, Alejandro A ^j   Warnatz, Klaus ^a   Browett, Peter ^g   Douglass, Jo ^b,c,d   Ameratunga, Rohan V ^e   Van Der Meer, Jos W M ^k   Grimbacher, Bodo ^a,l   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL MELBOURNE HOSPITAL   (Australia)

^e AUCKLAND CITY HOSPITAL   (New Zealand)

^f UNIVERSITY OF AUCKLAND   (New Zealand)

^g UNIVERSITY OF AUCKLAND   (New Zealand)

^h JEROEN BOSCH HOSPITAL   (Netherlands)

ⁱ BGI SHENZHEN   (China)

^j NATIONAL INSTITUTES OF HEALTH   (United States)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; NUCLEAR FACTOR KAPPA B1 P50 SUBUNIT; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR P105; UNCLASSIFIED DRUG; PRIMER DNA;

ADULT; AGED; ALLELE; ARTICLE; AUSTRALIAN; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; DUTCHMAN; EXON SKIPPING; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GERMAN (CITIZEN); HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MIDDLE AGED; NEW ZEALAND; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; RNA SPLICING; AUSTRALIA; CASE REPORT; CLINICAL TRIAL; DNA SEQUENCE; EXOME; FLUORESCENCE MICROSCOPY; GENETICS; MOLECULAR GENETICS; MULTICENTER STUDY; NETHERLANDS; NUCLEOTIDE SEQUENCE; WESTERN BLOTTING;

AUSTRALIA; BASE SEQUENCE; BLOTTING, WESTERN; COMMON VARIABLE IMMUNODEFICIENCY; DNA PRIMERS; EXOME; HAPLOINSUFFICIENCY; HUMANS; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; NETHERLANDS; NEW ZEALAND; NF-KAPPA B P50 SUBUNIT; SEQUENCE ANALYSIS, DNA;

EID: 84941025793     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.07.008     Document Type: Article

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