Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
about
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndromeLKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndromeMutation 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)Recombinational and mutational hotspots within the human lipoprotein lipase geneColon cancer associated genes exhibit signatures of positive selection at functionally significant positionsGermline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.Mutational analysis of STK11 gene in ovarian carcinomas.Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.LKB1, a protein kinase regulating cell proliferation and polarity.Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.Cladistic structure within the human Lipoprotein lipase gene and its implications for phenotypic association studies.The serine-threonine kinase LKB1 is essential for survival under energetic stress in zebrafish.High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review)STK11 status and intussusception risk in Peutz-Jeghers syndrome.Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes.Frameshift mutation of the STK11 gene in a sporadic gastrointestinal cancer with microsatellite instability.
P2860
Q21266604-E56EED74-4B2C-45AC-8E18-F8D21617161EQ24655120-2FFB8BDD-5EDD-4A2D-B7D5-467F378ADF27Q28201622-27EDBC0E-EC92-4DB3-B745-E5005A43321AQ34146213-14F70ABE-2CD8-45B6-9965-52FB5D3E93F6Q34334316-2DE5EDCA-3EBE-4449-BA55-2B9DE095E770Q34503694-1B7EDE64-C7CA-4DE4-8F7E-05F7AE58079DQ34504411-0302A2AB-EECC-41A6-9B79-9B34EE9F7151Q34508396-860A2D3F-E8E6-4996-98D5-713F8ACF35C6Q34528015-885C7948-2928-4C87-B733-685A5F15D3C1Q34534892-F5C64BBA-7497-4BD5-A0FD-63A94DB8F276Q34535544-3D5397CC-59B5-4BFA-9CA4-2899B6B48D9CQ34610913-9155AFBD-8ACA-40D4-B650-BDEF0F620E8BQ34693980-7781E74D-FA9D-4BA5-A1B1-416271CC2D88Q34746938-AA2797AF-C837-41DF-B4D9-E3C6746CFDF8Q35913743-E9B48FA3-9265-42C9-9454-38AE6C3838E4Q37269300-3462ED9C-2CF5-4F0A-8D43-018463D44672Q43169975-F41FEEE5-7885-41C1-ABAF-85FD3200BB30Q44768760-5AC79E86-902D-484F-95BC-B61A950F78D8Q47317248-1AFCD526-A9C0-4B0E-B6AF-E1153E36C351Q55092553-0FF2149A-B09F-451E-979E-FE8ABC7CD4A9
P2860
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@ast
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@en
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@nl
type
label
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@ast
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@en
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@nl
prefLabel
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@ast
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@en
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@nl
P2093
P356
P1433
P1476
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
@en
P2093
H Nakagawa
M Watatani
M Yasutomi
N Matsuura
Y Nakamura
P2888
P304
P356
10.1007/S004390050801
P407
P577
1998-08-01T00:00:00Z
P6179
1001304001