Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome
about
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome proteinDomain mapping of Escherichia coli RecQ defines the roles of conserved N- and C-terminal regions in the RecQ familyHigh-resolution structure of the E.coli RecQ helicase catalytic coreSgs1 truncations induce genome rearrangements but suppress detrimental effects of BLM overexpression in Saccharomyces cerevisiae.Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.The BLM dissolvasome in DNA replication and repair.ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation.Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition.
P2860
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P2860
Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome
description
2000 nî lūn-bûn
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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2000年の論文
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Identification of a novel BLM ...... patient with Bloom's syndrome
@ast
Identification of a novel BLM ...... patient with Bloom's syndrome
@en
Identification of a novel BLM ...... patient with Bloom's syndrome
@nl
type
label
Identification of a novel BLM ...... patient with Bloom's syndrome
@ast
Identification of a novel BLM ...... patient with Bloom's syndrome
@en
Identification of a novel BLM ...... patient with Bloom's syndrome
@nl
prefLabel
Identification of a novel BLM ...... patient with Bloom's syndrome
@ast
Identification of a novel BLM ...... patient with Bloom's syndrome
@en
Identification of a novel BLM ...... patient with Bloom's syndrome
@nl
P2093
P1433
P1476
Identification of a novel BLM ...... patient with Bloom's syndrome
@en
P2093
A Benslimane
M Amor-Guéret
R Onclercq
S Dutertre
P356
10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I
P407
P577
2000-06-01T00:00:00Z