Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

Molecular Endocrinology

Volumn 12, Issue 8, 1998, Pages 1112-1119

  Scott, H S ^a   Heino, M ^a   Peterson, P ^a   Mittaz, L ^a   Lalioti, M D ^a   Betterle, C ^a   Cohen, A ^a   Seri, M ^a   Lerone, M ^a   Romeo, G ^a   Collin, P ^a   Salo, M ^a   Metcalfe, R ^a   Weetman, A ^a   Papasavvas, M P ^a   Rossier, C ^a   Nagamine, K ^a   Kudoh, J ^a   Shimizu, N ^a   Krohn, K J E ^a   Antonarakis, S E ^a   more..

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PROLINE; ZINC FINGER PROTEIN;

ADDISON DISEASE; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNE DISEASE; CANDIDIASIS; CHRONIC GASTRITIS; CLINICAL ARTICLE; ETHNIC DIFFERENCE; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; HUMAN CELL; HYPOPARATHYROIDISM; INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TRANSCRIPTION REGULATION;

EID: 0032230236     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/mend.12.8.0143     Document Type: Article

References (21)

1. Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): Autosomal recessive inheritance
2. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
3. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21
4. Polyglandular autoimmune syndrome type I among Iranian Jews
5. Autoantibodies to cytochrome P450scc, P450c17 and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease
6. Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase
7. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with APS1
8. Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I
9. Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1
10. Genetic homogeneity of autoimmune polyglandular disease type I
11. Positional cloning of the APECED gene
12. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
13. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots
14. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
15. The nature and mechanisms of human gene mutation
16. Organ-specific disease provoked by systemic autoimmunity
17. Phenotypic diversity, allelic series and modifier genes
18. Mutation in GLI3 in postaxial polydactyly type A
19. Strike three for GLI3
20. Fibroblast growth factor receptor 3 and the human chondrodysplasias
21. The expanding world of primary adrenal insufficiencies