Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 4, 2004, Pages 1747-1752

  Cavaco, Branca M ^a,b   Guerra, Laura ^c   Bradley, Karin J ^b   Carvalho, Davide ^d   Harding, Brian ^b   Oliveira, Amélia ^e   Santos, Maria Amparo ^a   Sobrinho, Luís G ^a   Thakker, Rajesh V ^b   Leite, Valeriano ^a  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c HOSPITAL CURRY CABRAL   (Portugal)

^d HOSPITAL DE SÃO JOÃO   (Portugal)

^e Ministerio da Saude Portuguese   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

PARAFIBROMIN PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; CENTROMERE; CHROMOSOME 1Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE MARKER; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HRPT 2 GENE; HUMAN; HYPERPARATHYROIDISM; HYPERPARATHYROIDISM JAW TUMOR SYNDROME; MALE; PARATHYROID TUMOR; PORTUGAL; PREDICTION; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME; TELOMERE;

ADULT; AGED; AGING; DNA; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; HYPERPARATHYROIDISM; JAW NEOPLASMS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PENETRANCE; PORTUGAL; PROTEINS; SEX CHARACTERISTICS; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 11144355570     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-031016     Document Type: Article

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