| Literature DB >> 24795070 |
Danika Di Giacomo1, Anair Graciela Lema Fernandez1, Tiziana Pierini1, Barbara Crescenzi1, Lucia Brandimarte1, Caterina Matteucci1, Nicoletta Testoni2, Cristina Mecucci3.
Abstract
GNAS1 gene is located at the long arm of chromosome 20 (q13.32). GNAS1 gene deletion has never been investigated in MDS. A GNAS1 activating mutation (R201) was recently found in MDS. We applied FISH and DHPLC plus sequencing to investigate GNAS1 gene in MDS cases with and without del(20q) at karyotype.Entities:
Keywords: GNAS1; Haplo-insufficiency; MDS; del(20q)/20q−
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Year: 2014 PMID： 24795070 DOI： 10.1016/j.leukres.2014.03.017
Source DB: PubMed Journal: Leuk Res ISSN： 0145-2126 Impact factor: 3.156