Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.

Journal of medical genetics

Volumn 42, Issue 8, 2005, Pages

  Bradley, K J ^a   Cavaco, B M ^a   Bowl, M R ^a   Harding, B ^a   Young, A ^a   Thakker, R V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HRPT2 PROTEIN, HUMAN; MEN1 PROTEIN, HUMAN; MESSENGER RNA; ONCOPROTEIN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; FEMALE; GENETICS; HUMAN; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PRIMARY HYPERPARATHYROIDISM; RNA SPLICING;

ADULT; ALTERNATIVE SPLICING; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPERPARATHYROIDISM, PRIMARY; MUTATION; PROTO-ONCOGENE PROTEINS; RNA SPLICE SITES; RNA, MESSENGER; TUMOR SUPPRESSOR PROTEINS;

EID: 33644937809     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.032201     Document Type: Article

References (0)