A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Zhang, Junyu ^a,b   Liu, Hongbin ^c   Liu, Zhiyuan ^c   Liao, Yong ^d   Guo, Luo ^a,b   Wang, Honglian ^a,b   He, Lin ^a,b   Zhang, Xiaodong ^e,f,g   Xing, Qinghe ^a,b  

^a FUDAN UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c Henan Provincial Corps Hospital   (China)

^d Chongqing Corps Hospital   (China)

^e DUKE NUS MEDICAL SCHOOL   (Singapore)

^f NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^g DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; COMPLEMENTARY DNA; GLYCINE; SERINE;

AIRE GENE; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CHINESE; CLINICAL FEATURE; COMPUTER MODEL; CONSANGUINEOUS MARRIAGE; CONSANGUINITY; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; MOLECULAR RECOGNITION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE; SIBLING;

ADULT; ALTERNATIVE SPLICING; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CODON, NONSENSE; COMPUTATIONAL BIOLOGY; EXONS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYENDOCRINOPATHIES, AUTOIMMUNE; RNA, MESSENGER; SIBLINGS; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84872192656     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0053981     Document Type: Article

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