Diagnostics of primary immunodeficiency diseases: A sequencing capture approach

PLoS ONE

Volumn 9, Issue 12, 2014, Pages

  Moens, Lotte N ^a   Falk Sörqvist, Elin ^a   Asplund, A Charlotta ^b   Bernatowska, Ewa ^c   Smith, C I Edvard ^b   Nilsson, Mats ^a,d  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d SCIENCE FOR LIFE LABORATORY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

STAT3 PROTEIN; TRANSCRIPTOME; PGM3 PROTEIN, HUMAN; PHOSPHOGLUCOMUTASE; RNF168 PROTEIN, HUMAN; STAT3 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC PROCEDURES; HIGH THROUGHPUT SEQUENCING; HUMAN; IGLL1 GENE; IMMUNE DEFICIENCY; MOLECULAR DIAGNOSIS; PGM3 GENE; RNF168 GENE; SELECTOR BASED SEQUENCING CAPTURE ASSAY; STAT3 GENE; GENETICS; HAPLOTYPE MAP; HUMAN GENOME; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; PATHOLOGY; PROCEDURES;

GENOME, HUMAN; HAPMAP PROJECT; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; PHOSPHOGLUCOMUTASE; STAT3 TRANSCRIPTION FACTOR; TRANSCRIPTOME; UBIQUITIN-PROTEIN LIGASES;

EID: 84917706590     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0114901     Document Type: Article

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