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Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associat...

Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associat...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67757142

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

About this item

Full title

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

Publisher

Berlin: Springer

Journal title

Journal of molecular medicine (Berlin, Germany), 2005-04, Vol.83 (4), p.287-295

Language

English

Formats

Publication information

Publisher

Berlin: Springer

More information

Scope and Contents

Contents

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 the RET protein. Two mutations were present in clo...

Alternative Titles

Full title

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

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_67757142

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67757142

Other Identifiers

ISSN

0946-2716

E-ISSN

1432-1440

DOI

10.1007/s00109-004-0604-6

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