rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Disease-causing missense mutations in human DNA helicase disorders.
23276657
2015
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Multimeric BLM is dissociated upon ATP hydrolysis and functions as monomers in resolving DNA structures.
22885301
2012
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function.
22582397
2012
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
0.800
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
0.800
GeneticVariation
UNIPROT
Carrier screening in individuals of Ashkenazi Jewish descent.
18197057
2008
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
17407155
2007
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.
17878217
2007
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure.
15579905
2005
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.
12444098
2002
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Elevation of sister chromatid exchange in Saccharomyces cerevisiae sgs1 disruptants and the relevance of the disruptants as a system to evaluate mutations in Bloom's syndrome gene.
10812332
2000
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.
10965492
2000
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.
10069810
1999
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.
9840919
1998
rs747281324
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
G
0.800
GeneticVariation
CLINVAR
The Bloom's syndrome gene product is homologous to RecQ helicases.
7585968
1995