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Title:

Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.

Document type:
Journal Article
Author(s):
Pellegata, NS; Quintanilla-Martinez, L; Siggelkow, H; Samson, E; Bink, K; Höfler, H; Fend, F; Graw, J; Atkinson, MJ
Abstract:
MENX is a recessive multiple endocrine neoplasia-like syndrome in the rat. The tumor spectrum in MENX overlaps those of human multiple endocrine neoplasia (MEN) types 1 and 2. We mapped the MenX locus to the distal part of rat chromosome 4, excluding the homologs of the genes responsible for the MEN syndromes (RET and MEN1) and syndromes with an endocrine tumor component (VHL and NF1). We report the fine mapping of the disease locus and the identification of a homozygous frameshift mutation in C...     »
Journal title abbreviation:
Proc Natl Acad Sci U S A
Year:
2006
Journal volume:
103
Journal issue:
42
Pages contribution:
15558-63
Language:
eng
Fulltext / DOI:
doi:10.1073/pnas.0603877103
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17030811
Print-ISSN:
0027-8424
TUM Institution:
Institut für Allgemeine Pathologie und Pathologische Anatomie
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