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Journal article

Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions.

Abstract:

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 four families: two mutations are novel (mt 1539 delG and mt 655 ims 11 bp) and two ...

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Publication status:
Published

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Journal:
Clinical endocrinology
Volume:
56
Issue:
4
Pages:
465-473
Publication date:
2002-04-05
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
URN:
uuid:1f94b77b-7cb8-4a8c-b5cd-4b8030d8bc02
Source identifiers:
13844
Local pid:
pubs:13844

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