Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4)
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LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndromeRecent progress on liver kinase B1 (LKB1): expression, regulation, downstream signaling and cancer suppressive function.Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 geneMutations in the LKB1 tumour suppressor are frequently detected in tumours from Caucasian but not Asian lung cancer patientsExonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
P2860
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P2860
Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4)
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2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@ast
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@en
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@nl
type
label
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@ast
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@en
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@nl
prefLabel
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@ast
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@en
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@nl
P2093
P2860
P356
P1433
P1476
Mutation screening at the RNA ...... 597(insertion mark)598insIVS4)
@en
P2093
W G Ballhausen
W Hohenberger
P2860
P304
P356
10.1002/HUMU.1211
P407
P577
2001-11-01T00:00:00Z