Article
Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions.
Clinical endocrinology - 1 Apr 2002
Cavaco B M, Domingues R, Bacelar M C, Cardoso H, Barros L, Gomes L, Ruas M M A, Agapito A, Garrão A, Pannett A A J, Silva J L, Sobrinho L G, Thakker R V, Leite V
Abstract excerpt
OBJECTIVE: To determine the spectrum of MEN1 mutations in Portuguese kindreds, and identify mutation-carriers. PATIENTS, DESIGN AND RESULTS: Six unrelated MEN1 families were studied for MEN1 gene mutations by single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the coding region and exon-intron boundaries of the MEN1 gene. These methods identified 4 different heterozygous mutations in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.