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Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
2012
Arquivos brasileiros de endocrinologia e metabologia
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OBJECTIVE: This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND METHODS: Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS: A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II. CONCLUSION: We
doi:10.1590/s0004-27302012000300006
pmid:22666734
fatcat:vge23idjpbf5bajtim3po7nbhm