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Novel <i>MEN1</i> germline mutations in Brazilian families with multiple endocrine neoplasia type 1

6 Jun 2007

Abstract excerpt

OBJECTIVE: To characterize clinical features and identify MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1 (MEN1). Settings Non-profit academic centre. PATIENTS: Fourteen Brazilian families with MEN1 and 141 at-risk relatives. RESULTS: We identified 12 different MEN1 disease-causing mutations, seven of them previously unreported: 308delC; 375del21; 549A>T (I147F); 1243delA;...

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PMID: 17555499
DOI: 10.1111/j.1365-2265.2007.02895.x

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