Title: | Hyperparathyroidism-Jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene |
Journal : | Journal of clinical endocrinology and metabolism (The), 89, 4 |
Authors: | Cavaco BM ; Fernandez-Guerra J ; Bradley KJ ; Carvalho D ; Harding BN ; Oliveira A ; Santos MA ; Sobrinho LG ; Thakker RV ; Leite V |
Material Type: | Article |
Publication Date: | 2004 |
Size: | p. 1747-1752 |
Languages: | English |
Keywords : | adulthood ; age ; alleles ; blood serum ; bone cancer ; chromosome 1 ; elderly people ; family ; family trees ; female ; genetic deletions ; genetic markers ; genetic polymorphism ; haplotypes ; hyperparathyroidism ; jaws ; male ; nucleotide sequences ; PCR ; penetrance ; Portugal ; primary structure of proteins ; teenagers ; young adults |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15070940 |