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biallelic mutations in BLM(passive) caused bycancers.[ncbi.nlm.nih.gov ] Bloom syndrome
which identifies carriers of the BLM gene mutationcausingBloom Syndrome
mutations in the BLM gene , which are knownto causeBloom Syndrome
mutations in the BLM gene responsible for the DNA helicase , an enzyme that unwinds the two spiral strands of a DNA molecule so that they can be copied(passive) is caused byBloom syndrome
a change ( mutation ) in the BLM gene(passive) is caused byBloom syndrome
human BLM ( mutations in whichcauseBloom 's syndrome
genetic changes in the BLM gene , which encodes RECQL3(passive) is caused byBloom syndrome
Mutations in the BLM gene ( locus 15q26.1causeBloom syndrome
mutations in the BLM gene encoding a RecQ helicase(passive) is caused byBloom syndrome
The defective genecausingBloom Syndrome
a patient ... the geneleadsto Bloom syndrome
screening for a genecausesBloom syndrome
the mutation in the BLM gene which is located on chromosome 15q26(passive) is caused byBloom syndrome
a deep intronic variant leading to pseudoexon activation ( 2020(passive) caused bybloom syndrome
mutations in the BLM ( RECQL2 ) gene(passive) caused byBloom syndrome
changes in a protein that normally helps cells make copies of the DNA(passive) is caused byBloom syndrome
a gene change , or mutation(passive) is caused byBloom Syndrome
a mutation in the helicase gene(passive) caused byBloom syndrome
mutations in the BLM gene , which encodes for a RecQ helicase called the Bloom syndrome protein(passive) is caused byBloom syndrome
Background Biallelic loss‐of‐function BLM mutationsresultin Bloom syndrome
mutations in the BLM gene , which encodes the DNA helicase RecQl3 involved in maintenance of genomic integrity(passive) is caused byBloom syndrome
mutations in the BLM gene , which encodes BLM , a RecQ 3′-5′ DNA helicase ( 1(passive) is caused byBloom 's syndrome
mutations in the BLM gene , which encodes a protein called RECQL3 ( RECQ protein - Like 3(passive) is caused byBloom syndrome
mutations in the BLM gene , which is important in maintaining the stability of the DNA for correct DNA replication during cell division(passive) is caused byBloom syndrome
a homolog of the human BLM genecausesBloom syndrome
a mutation in the BLM gene at 15q26 with elevated chromatid exchanges that may develop multiple malignancies(passive) is caused byBloom syndrome
mutations in a single gene [ BLM ( 15q26.1(passive) caused byThe Bloom syndrome
in which mutations are knownto causeBloom syndrome
This assay ... the mutationscauseBloom syndrome
What types of mutationsleadto Bloom syndrome
homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM(passive) is caused byBloom syndrome ( BS
founder mutations were detectedcausingBloom syndrome
changes in a gene , BLM , which is responsible for copying and repairing DNA in cells(passive) is caused byBloom ’s syndrome
mutations of the WRN homolog BLM(passive) is caused byBloom Syndrome
Mutations in the human ortholog ( BLMcauseBloom syndrome
mutations affecting the BLM protein(passive) caused byBloom syndrome
the molecular consequences of five mutationscauseBloom syndrome
people ... potential genetic mutationscauseBloom Syndrome
the agency ... a test for carriers of a genetic mutationscausesBloom syndrome
a deep intronic variant leading to pseudoexon activation Lynn Backers ( UGent ) , Bram Parton ( UGent ) , Stephanie Vermeulen ( UGent ) , Marieke De Bruyne ( UGent ) , Simon Tavernier ( UGent ) , Kris Van Den Bogaert , Anne Vral ( UGent ) , Ans Baeyens ( UGent ) , Filomeen Haerynck ( UGent ) , Bart Lambrecht ( UGent ) , et al(passive) caused bybloom syndrome
short staturecausesshort stature
growth retardation , immunodeficiency , sabotage , and threatscausesgrowth retardation , immunodeficiency , sabotage , and threats
a significantly increased risk of all cancer typesalso causesa significantly increased risk of all cancer types
chromosomal instability and sister chromatid exchangecauseschromosomal instability and sister chromatid exchange
11 May 2018 , 3:19 p.m. Mutations in the human RecQ helicase gene BLMCreated11 May 2018 , 3:19 p.m. Mutations in the human RecQ helicase gene BLM
poor growth , poor immune system function and a high rate of cancercausespoor growth , poor immune system function and a high rate of cancer
from a mutation of the BLM generesultingfrom a mutation of the BLM gene
poor growth , immune system problems and a high rate of cancercausespoor growth , immune system problems and a high rate of cancer
and first described by dermatologist Dr. David Bloom in 1954 Mutations in the BLM gene ... locus 15q26.1was discoveredand first described by dermatologist Dr. David Bloom in 1954 Mutations in the BLM gene ... locus 15q26.1
growth retardation and erythema of the hands and feetcausesgrowth retardation and erythema of the hands and feet
poor growth and a high rate of cancercausespoor growth and a high rate of cancer
from mutations in a gene on the long arm of chromosome number 15is resultingfrom mutations in a gene on the long arm of chromosome number 15
facial and stature deformitiescausesfacial and stature deformities
missense mutationscausingmissense mutations
infertility in males and reduced fertility in femalesto causeinfertility in males and reduced fertility in females
of BLM helicase , Topoisomerase 3α , RMI1 and RMI2composedof BLM helicase , Topoisomerase 3α , RMI1 and RMI2
No view(passive) was designedNo view
crossoverspreventscrossovers
On 2/10/05 2:10 PMCreatedOn 2/10/05 2:10 PM