Gene hunting in the genomic era: Approaches to diagnostic dilemmas in patients with primary immunodeficiencies

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 2, 2014, Pages 262-268

  Platt, Craig ^a   Geha, Raif S ^a   Chou, Janet ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

homozygosity mapping; linkage analysis; Primary immunodeficiencies; whole exome sequencing; whole genome sequencing

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CELL FUNCTION; CELL MATURATION; DNA SEQUENCE; EXOME; FILTRATION; GENE MUTATION; GENOME; GENOMICS; HUMAN; IMMUNE DEFICIENCY; IMMUNOCOMPETENT CELL; NONHUMAN; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; ANIMAL; GENE EXPRESSION REGULATION; GENETIC COUNSELING; GENETIC LINKAGE; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; IMMUNOLOGIC DEFICIENCY SYNDROMES; MOUSE; PATHOLOGY; PEDIGREE; PROCEDURES; SIGNAL TRANSDUCTION;

ANIMALS; EXOME; GENE EXPRESSION REGULATION; GENETIC COUNSELING; GENETIC LINKAGE; GENOMICS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MICE; PEDIGREE; PHENOTYPE; SIGNAL TRANSDUCTION;

EID: 84905502530     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.08.021     Document Type: Article

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