Discovery of single-gene inborn errors of immunity by next generation sequencing

Current Opinion in Immunology

Volumn 30, Issue 1, 2014, Pages 17-23

  Conley, Mary Ellen ^a   Casanova, Jean Laurent ^a,b,c,d  

^a ROCKEFELLER UNIVERSITY   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c IMAGINE INSTITUTE   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; DISEASE MODEL; DNA FRAGMENTATION; DNA SEQUENCE; GAIN OF FUNCTION MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; IMMUNOGENETICS; LOSS OF FUNCTION MUTATION; MURINE MODEL; NONHUMAN; PATIENT CODING; PENETRANCE; PHENOTYPE; REVIEW; WHOLE EXOME SEQUENCING; ANIMAL; EXON; GENETICS; HIGH THROUGHPUT SEQUENCING; IMMUNOLOGY; GENE FREQUENCY; NEXT GENERATION SEQUENCING; SEQUENCE ANALYSIS;

ANIMALS; DISEASE MODELS, ANIMAL; EXONS; GENETIC DISEASES, INBORN; GENETIC HETEROGENEITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PHENOTYPE;

EID: 84901496122     PISSN: 09527915     EISSN: 18790372     Source Type: Journal    
DOI: 10.1016/j.coi.2014.05.004     Document Type: Review

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