WordNet

a large digital computer serving 100-400 users and occupying a special air-conditioned room (同)mainframe computer

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjold M, Latif F, Hurst LD, Maher ER.SourceCentre for Rare Diseases and Personalised Medicine and Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom.
Human mutation.Hum Mutat.2011 Aug;32(8):921-9. doi: 10.1002/humu.21519. Epub 2011 Jul 12.
Germline mutations in the FLCN gene cause Birt-Hogg-Dube syndrome, familial spontaneous pneumothorax, or apparently nonsyndromic inherited RCC. The vast majority of reported FLCN mutations are predicted to result in a truncated/absent gene product and so infrequent missense and inframe-deletion (IF
PMID 21538689

EGFR exon 20 insertion mutations in non-small-cell lung cancer: preclinical data and clinical implications.

Yasuda H, Kobayashi S, Costa DB.SourceDepartment of Medicine, Division of Hematology/Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
The lancet oncology.Lancet Oncol.2011 Jul 15. [Epub ahead of print]
Lung cancer is the leading cause of cancer-related death. The identification of epidermal growth factor receptor (EGFR) somatic mutations defined a new, molecularly classified subgroup of non-small-cell lung cancer (NSCLC). Classic EGFR activating mutations, such as inframe deletions in exon 19 or t
PMID 21764376

吉田徹,馬場祐康,下沖収,阿部正,菅井有,幅野渉,上杉憲幸,中村眞一,斎藤和好,野水整
日本消化器外科学会雑誌 36(2), 149-153, 2003-02-01
… 内に充実性腫瘤を認め,生検の結果直腸癌の診断で手術を施行した.病理組織学的検査では高分化型腺癌,a1 n0 ly1 v1 stageIIで粘液産生が著明であった.癌部の遺伝子不安定性の検索を行ったところhigh-frequency Microsatellite instability(MSI-H)であった.germ lineでの検索でhMSH-2遺伝子にinframe変異を認め,遺伝性非ポリポージス大腸癌と診断した.散発例大腸癌でも,MSI-Hの症例は家族を含め,癌の早期発見のために注意深いfollow upが必要である. …
NAID 110001294780

Donor splice site mutation in keratin 5 causes inframe removal of 22 amino acids of H1 and 1A rod domains in Dowling -Meara epidermolysis bullosa simplex