Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.
about
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variantsUnique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiencyAgenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.
P2860
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P2860
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Improved multiplex ligation-de ...... sover between PMS2 and PMS2CL.
@ast
Improved multiplex ligation-de ...... sover between PMS2 and PMS2CL.
@en
type
label
Improved multiplex ligation-de ...... sover between PMS2 and PMS2CL.
@ast
Improved multiplex ligation-de ...... sover between PMS2 and PMS2CL.
@en
prefLabel
Improved multiplex ligation-de ...... sover between PMS2 and PMS2CL.
@ast
Improved multiplex ligation-de ...... sover between PMS2 and PMS2CL.
@en
P2093
P2860
P356
P1476
Improved multiplex ligation-de ...... ssover between PMS2 and PMS2CL
@en
P2093
Annekatrin Wernstedt
Franco Armelao
Giancarlo Marra
Johannes Zschocke
Karl Heinimann
Katharina Wimmer
Ludwine Messiaen
Noemie Staehli
Roberto Togni
Salvatore Girlando
P2860
P304
P356
10.1002/GCC.21966
P577
2012-05-14T00:00:00Z