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TITLE: Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
AUTHORS: Bradley, KJ; Cavaco, BM ; Bowl, MR; Harding, B; Young, A; Thakker, RV;
PUBLISHED: 2005, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 42, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
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TITLE: Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene
AUTHORS: Cavaco, BM ; Guerra, L; Bradley, KJ; Carvalho, D ; Harding, B; Oliveira, A; Santos, MA; Sobrinho, LG; Thakker, RV; Leite, V ;
PUBLISHED: 2004, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 89, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 53