A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1

Immunogenetics

Volumn 69, Issue 10, 2017, Pages 643-651

  Zhu, Wufei ^a   Hu, Zhen ^a   Liao, Xiangyu ^a   Chen, Xing ^a   Huang, Wenrong ^a   Zhong, Yu ^a   Zeng, Zhaoyang ^a  

^a CHINA THREE GORGES UNIVERSITY   (China)

Author keywords

AIRE gene; Autoimmune polyglandular syndrome; Gene mutation; Homodimerization of AIRE

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; GLUTAMATE DECARBOXYLASE 65; GLUTAMINE; MUTANT PROTEIN; PROLINE; TRYPTOPHAN HYDROXYLASE; TRYPTOPHAN HYDROXYLASE 1; UNCLASSIFIED DRUG; GLUTAMATE DECARBOXYLASE; GLUTAMATE DECARBOXYLASE 2; TPH1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CASE REPORT; CLINICAL ARTICLE; CONTROLLED STUDY; DIMERIZATION; EMBRYO; EXON; FLOW CYTOMETRY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOLOGICAL TOLERANCE; MALE; NONHUMAN; PRIORITY JOURNAL; QUANTITATIVE ASSAY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TWO HYBRID SYSTEM; YOUNG ADULT; CHEMISTRY; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENETICS; IMMUNOLOGY; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; POLYENDOCRINOPATHY; PROTEIN MULTIMERIZATION;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CENTRAL TOLERANCE; EXONS; GENE EXPRESSION REGULATION; GLUTAMATE DECARBOXYLASE; HUMANS; MALE; PEDIGREE; POINT MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROTEIN MULTIMERIZATION; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TRYPTOPHAN HYDROXYLASE; TWO-HYBRID SYSTEM TECHNIQUES; YOUNG ADULT;

EID: 85019553379     PISSN: 00937711     EISSN: 14321211     Source Type: Journal    
DOI: 10.1007/s00251-017-0995-5     Document Type: Article

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