Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

Human Mutation

Volumn 18, Issue 3, 2001, Pages 225-232

  Cihakova, Daniela ^a,b   Trebusak, Katarina ^c   Heino, Maarit ^a   Fadeyev, Valentin ^d   Tiulpakov, Anatoly ^e   Battelino, Tadej ^c   Tar, Attila ^f   Halsz, Zita ^g   Blmel, Peter ^h   Tawfik, Sameh ⁱ   Krohn, Kai ^a   Lebl, Jan ^b   Peterson, Prt ^a,j  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b CHARLES UNIVERSITY   (Czech Republic)

^c University children'Shospital   (Slovenia)

^d I M SECHENOV FIRST MOSCOW STATE MEDICAL UNIVERSITY   (Russian Federation)

^e N N BLOKHIN NATIONAL MEDICAL RESEARCH CENTER OF ONCOLOGY   (Russian Federation)

^f Heim Madarász Hospital   (Hungary)

^g SEMMELWEIS UNIVERSITY   (Hungary)

^h Prayerisches Kinderspital   (Austria)

ⁱ Maadi Armed Forces Hospital   (Egypt)

^j UNIVERSITY OF TAMPERE   (Finland)

more..

Author keywords

AIRE; APECED; APS1; APSI; Autoimmunity; Central Europe; Cytochrome P450; Eastern Europe; Mutation analysis; Polyendocrinopathy

Indexed keywords

AUTOANTIBODY; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CYTOCHROME P450; CYTOCHROME P450C17; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

AIRE GENE; ANTIBODY TITER; ANTIGEN EXPRESSION; ANTIGEN SPECIFICITY; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CLINICAL ARTICLE; EASTERN EUROPE; EGYPT; ENDOCRINE DISEASE; ESCHERICHIA COLI; EUROPE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMORAL IMMUNITY; IMMUNOBLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECURRENT DISEASE; REGULATOR GENE; STEROIDOGENESIS;

AUTOANTIBODIES; CYTOCHROME P-450 ENZYME SYSTEM; DNA; DNA MUTATIONAL ANALYSIS; EUROPE; HAPLOTYPES; HUMANS; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSCRIPTION FACTORS;

EID: 0034861436     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1178     Document Type: Article

References (26)

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2. Genetic homogeneity of autoimmune polyglandular disease type I
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