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are thoughtto causeneuropathy.[13 ] Mutations
zero proteins are thoughtto causeneuropathy.[13 ] Mutations
by frameshift , nonsense , and splice - site mutations(passive) caused byHaploinsufficiency mutations
frameshift , nonsense , and splice - site mutations(passive) caused byhaploinsufficiency mutations
frameshift , nonsense , and splice - site mutations , which lead to failure to synthesize the products of one COL1A1 allele(passive) caused byhaploinsufficiency mutations
by cancer Chromosome(passive) caused by Carcinogenesis Mutations
HBV subgenotype C2 infectionmay contributeA1762T / G1764A mutations
Alkylationcan also causemiscoding mutations
imp1 andcausecut15 mutations
These alterationscan leadtopermanent mutations
the mutagenic stressinfluencedEGFR mutations
also(passive) have ... been discoveredBRAF mutations
Although compositions haw alter undramatically withinfamilies , specic phenotypess be givento be discoveredwithcertain mutations
also(passive) are ... discoveredmTOR mutations
in 2004 ( 4,6,7(passive) were discoveredEGFR mutations
a dominant familial cancer syndromecausedgermline mutations
geneswhere ... causegermline mutations
Diseasecausinggermline mutations
frame shiftcausingindel mutations
cancercausinggermline mutations
a variety of endogenous and exogenous factors(passive) can be caused byGermline mutations
another endogenous factorcan causegermline mutations
that scientists and doctors do not knowcausesCDKL5 mutations
Oxidative damage ... another endogenous factorcan causegermline mutations
by the latter(passive) caused byoncogene mutations
diseasecausingTNFRSF13B mutations
a variety of endogenous ( internal ) and exogenous ( external ) factors(passive) can be caused byGermline mutations
all SNPscausingnonsynonymous mutations
by post - mortem DNA damage ( see Materials and Methods(passive) caused byartefactual mutations
potent environmental carcinogens(passive) are caused byExogenous mutations
seven SNPs between the parents in the coding sequence of UGT1could causenonsynonymous mutations
exposure of the fetus in the uterus(passive) are caused byTeratogenic mutations
The transposons hop like madcausinginsertional mutations
Diseasecausinggermline mutation(s
harsh environmentscausenonrandom mutations
non - marker- or incomplete marker - associated insertions that could complicate analysis of the mutants generated(passive) caused byinsertional mutations
in 15C30 % of AML and supplementary AML , mainly cytogenetically regular AML(passive) have already been discoveredIDH mutations
up to 20 percent of cases of this syndromelikely causeup to 20 percent of cases of this syndrome
an autosomal dominant cancer predisposition syndrome(passive) caused byan autosomal dominant cancer predisposition syndrome
hereditary colorectal cancer caused by a germline mutation in a DNA mismatch repair gene ) and hereditary breast and ovarian cancer(passive) caused byhereditary colorectal cancer caused by a germline mutation in a DNA mismatch repair gene ) and hereditary breast and ovarian cancer
to a loss in functionleadto a loss in function
Costello syndrome ( CS ) , a congenital disorder associated with predisposition to malignancycauseCostello syndrome ( CS ) , a congenital disorder associated with predisposition to malignancy
The autosomal dominant tumor predisposition disorder ,(passive) caused byThe autosomal dominant tumor predisposition disorder ,
Lynch syndrome ( LS ) , the most common hereditary colorectal cancer syndrome(passive) is caused byLynch syndrome ( LS ) , the most common hereditary colorectal cancer syndrome
cancerdo ... causecancer
to the diagnosis of hereditary cancer predispositionleadingto the diagnosis of hereditary cancer predisposition
to both common and rare familial cancerscontributingto both common and rare familial cancers
in susceptibility to familial cancers for individualsresultin susceptibility to familial cancers for individuals
Hereditary nonpolyposis colorectal cancer ( HNPCC or Lynch syndrome(passive) is caused byHereditary nonpolyposis colorectal cancer ( HNPCC or Lynch syndrome
developmental syndromes and somatic mutationscausedevelopmental syndromes and somatic mutations
the molecular pathogenesis of human genetic syndromes(passive) caused bythe molecular pathogenesis of human genetic syndromes
Lynch syndrome(passive) is caused byLynch syndrome
syndromecausingsyndrome
a vascular - anomaly syndrome with phenotypic overlapcausea vascular - anomaly syndrome with phenotypic overlap
different clinical syndromescausedifferent clinical syndromes
Li - Fraumeni syndromecausingLi - Fraumeni syndrome
these genetic syndromescausethese genetic syndromes
to cancercontributeto cancer
Cancer(passive) caused byCancer
The disease(passive) is primarily caused byThe disease
to familial early onset ADleadingto familial early onset AD
tissue - specific disease presentationcausingtissue - specific disease presentation
a neurofibromatosis type 1 overlapping phenotypecauseda neurofibromatosis type 1 overlapping phenotype
familial adenomatous polyposis andcausefamilial adenomatous polyposis and
cancer susceptibility in > 1000 children with cancercausingcancer susceptibility in > 1000 children with cancer
a predisposition to the development of malignancy in neurofibromatosiscausinga predisposition to the development of malignancy in neurofibromatosis
Peutz - Jeghers Syndrome Peutz - Jeghers syndrome(passive) is caused byPeutz - Jeghers Syndrome Peutz - Jeghers syndrome
in malignant developmentresultingin malignant development
to the development of colorectal cancerleadingto the development of colorectal cancer
Jervell and Lange - Nielsen syndromecauseJervell and Lange - Nielsen syndrome
a few cancerscan causea few cancers
congenital central hypoventilation syndromecausecongenital central hypoventilation syndrome
familial lung cancercausingfamilial lung cancer
in Lynch syndrome and BRCA1 and BRCA2resultingin Lynch syndrome and BRCA1 and BRCA2
to skeletal dysplasialeadto skeletal dysplasia
in all cells of an individualresultin all cells of an individual
diseases(passive) caused bydiseases