CDC73-related hereditary hyperparathyroidism: Five new mutations and the clinical spectrum

European Journal of Endocrinology

Volumn 165, Issue 3, 2011, Pages 477-483

  Frank Raue, Karin ^a   Haag, Christine ^a   Schulze, Egbert ^a   Keuser, Roger ^b   Raue, Friedhelm ^a   Dralle, Henning ^c   Lorenz, Kerstin ^c  

^a Endocrine Practice   (Germany)

^b Endocrine Practice   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PARAFIBROMIN; PROTEIN; UNCLASSIFIED DRUG; CDC73 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN; CALCIUM; GENOMIC DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BENIGN TUMOR; CALCIUM BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; DATA ANALYSIS; DISEASE ASSOCIATION; DNA SEQUENCE; FAMILY STUDY; FEMALE; FOLLOW UP; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; JAW TUMOR; KIDNEY CYST; KIDNEY TUMOR; MALE; MALIGNANT NEOPLASTIC DISEASE; MUTATIONAL ANALYSIS; OUTPATIENT DEPARTMENT; PARATHYROID CARCINOMA; PARATHYROID TUMOR; PHENOTYPE; PRIORITY JOURNAL; SURGICAL WARD; TUMOR SUPPRESSOR GENE; UTERUS TUMOR; AGED; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; CELL DIVISION CYCLE PROTEIN 73 GENE; CONTROLLED STUDY; DISEASE SEVERITY; GENE DELETION; GENETIC DISORDER; GERM LINE; HYPERTHYROIDISM; JAW CANCER; PARATHYROID ADENOMA; PARATHYROID HYPERPLASIA; PATIENT ASSESSMENT; PEDIGREE ANALYSIS; SEQUENCE ANALYSIS; TUMOR CLASSIFICATION; UTERUS MYOMA;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; HYPERPARATHYROIDISM; MALE; MIDDLE AGED; PARATHYROID NEOPLASMS; PEDIGREE; TUMOR SUPPRESSOR PROTEINS;

EID: 80051700212     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0003     Document Type: Article

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