Výsledky vyhledávání - "Damien McCall"

The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status

Autor: Patrick J. Morrison, Damien McCall, Colin F J Russell, Steven J. Hunter, Tabib Dabir

Publikováno v: Familial cancer. 5(2)

Objective: We describe a 4-generation family with familial medullary thyroid carcinoma (FMTC) – a variant of multiple endocrine neoplasia type 2 (MEN 2) without extra-thyroid features. RET mutation analysis confirmed an E768D mutation in exon 13 in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6304d7ad4783e5fcaa97ab9bfb6b5564
https://pubmed.ncbi.nlm.nih.gov/16736292

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Akademický článek

The RET Mutation E768D Confers a Late-onset Familial Medullary Thyroid Carcinoma – Only Phenotype with Incomplete Penetrance: Implications for Screening and Management of Carrier Status.

Autor: Tabib Dabir, Steven Hunter, Colin Russell, Damien McCall, Patrick Morrison

Publikováno v: Familial Cancer; Jun2006, Vol. 5 Issue 2, p201-204, 4p

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