Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 8, 2000, Pages 2922-2926

  Ishii, Tomohiro ^a   Suzuki, Yoshimi ^b   Ando, Naoki ^b   Matsuo, Nobutake ^a   Ogata, Tsutomu ^a  

^a KEIO UNIVERSITY   (Japan)

^b TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; GENE PRODUCT; HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ALLELE; ALOPECIA; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CANDIDIASIS; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CODON; CONTROLLED STUDY; ECTODERMAL DYSPLASIA; ENDOCRINE DISEASE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; HOMEOBOX; HUMAN; HYPOPARATHYROIDISM; JAPAN; MALE; NUCLEOTIDE SEQUENCE; ONYCHOMYCOSIS; PHENOTYPE; PRIORITY JOURNAL; REGULATOR GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; SYMPTOM; THRUSH;

CHILD; DNA TRANSPOSABLE ELEMENTS; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; JAPAN; KOREA; MALE; NUCLEAR FAMILY; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSCRIPTION FACTORS;

EID: 0034456540     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.8.2922     Document Type: Article

References (14)

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