Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome

Two mutations on the same allele of RET gene were revealed in a family with predisposition to multiple endocrine neoplasia (MEN) type 2A. The first mutation changes codon 634 from cysteine to serine. The second, a novel mutation in codon 641, changes alanine to serine in the transmembrane domain of...

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Veröffentlicht in:Journal of molecular medicine (Berlin, Germany) Germany), 2005-04, Vol.83 (4), p.287-295
Hauptverfasser: POTURNAJOVA, M, ALTANEROVA, V, KOSTALOVA, L, BREZA, J, ALTANER, C
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Sprache:eng
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