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Article

A novel mutation (D631del) of the RET gene was associated with MEN2A in a Chinese pedigree.

Endocrine journal - 1 Jan 2009

Yao Bin, Liu Xue, Liang Hua, Dong Ting-Ting, Huang Zhi-Min, Chen Xiong, Weng Jian-Ping

Abstract excerpt

Germline mutations in the RET proto-oncogene (RET gene) are well documented as the genetic causes of multiple endocrine neoplasia type 2A (MEN2A). We performed genetic analysis by direct RET gene mutation analysis in a Chinese MEN2A family and compared these results with biochemical screening tests and pathological examinations. Twenty-one exons and flanking introns of the RET gene were amplified using polymerase...

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Identifiers

PMID: 18845906
DOI: 10.1507/endocrj.k08e-066

Genes

RET

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A novel mutation (D631del) of the RET gene was associated with MEN2A in a Chinese pedigree.PMID 18845906Read ↗

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[DelD631: a novel mutation of the RET proto-oncogene in multiple endocrine neoplasia type 2A (MEN2A)].Semantic proximity Read ↗

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