Update on CECR1 molecular diagnostics: New mutations in the deficiency of ADA2 (DADA2) and the North American polyarteritis nodosa (PAN) cohort

Pediatric Rheumatology

Volumn 13, Issue 1, 2015, Pages

  Stoffels, M ^a   Zhou, Q ^a   Chen, C ^a   Aksentijevich, I ^a   Kastner, D L ^a   Merkel, P A ^b   the Vasculitis Clinical Research Consortium, ^c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 2; UNCLASSIFIED DRUG;

ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; CECR1 GENE; CLINICAL ARTICLE; COHORT ANALYSIS; EXON; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PHENOTYPE; POLYARTERITIS NODOSA; POPULATION DISTRIBUTION; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 84956721848     PISSN: None     EISSN: 15460096     Source Type: Journal    
DOI: 10.1186/1546-0096-13-S1-O20     Document Type: Article

References (0)