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Loss of NF1 protein in cellscausesNF1 disease
by loss of NF1 protein(passive) to be caused byNF1 disease
aflatoxin fungus(passive) caused byAflatoxicosis disease
UPD in humansleadstocongenital disease
mutations in the ABCA4 gene or the ELOVL4 gene(passive) is caused byStargardt disease
a defective ASPA gene which is responsible for the production of the enzyme aspartoacylase(passive) is caused byCanavan disease
a defective ASPA gene , responsible for the production of the enzyme aspartoacylase(passive) is caused byCanavan disease
changes ( mutations ) in either the ABCA4 gene , which is more common , or the ELOVL4 gene , which is rare(passive) is caused byStargardt disease
the ABCA4 genecauseStargardt disease
faults in a gene known as ABCA4(passive) is caused byStargardt disease
a healthy gene ... the defective onecausesCanavan disease
mutations in the ASPA gene(passive) is caused byCanavan disease
a healthy gene to take over for the defective onecausesCanavan disease
Over 800 mutations in ABCA4 are now knownto causeStargardt disease
a gene change , or mutation(passive) is caused byCanavan Disease
the death of photoreceptor cells located in the center of the retina(passive) is caused byStargardt disease
the presence of the recessive genecausesStargardt disease
a mutation in a gene called ABCA4(passive) is caused byStargardt disease
a faulty ( mutated ) gene(passive) is caused byStargardt disease
knownto causeStargardt disease
mutations in any one of 14 genes(passive) may be caused byBatten disease
a deficiency of the enzyme aspartoacylase ( ASPA ) which leads to a build up of N - acetylaspartic acid ( NAA ) in the brain(passive) is caused byCanavan disease
by mutations in the tripeptidyl peptidase 1 gene(passive) caused byBatten disease
the deadly genecausingCanavan disease
mutations in PROM1(passive) is caused byStargardt disease
the funguscausingBakanese disease
by mutations in the tripeptidyl peptidase 1 ( TPP1 ) gene(passive) caused byBatten disease
by mutations to the TPP1 gene(passive) can be caused byBatten disease
mutations in the * CLN3 * gene(passive) is caused byBatten ) disease
by mutations in the CLN3 gene(passive) caused byBatten disease
mutations to the ASPA gene , which encodes an enzyme , aspartoacylase , that breaks down N - acetyl - L - aspartic acid(passive) is caused byCanavan disease
mutations ( errors ) in the CLN3 gene(passive) is caused byBatten disease
Mutations in at least eight different genes are knownto causeBatten disease
the accumulation of toxic byproducts from vitamin A processing in the retina(passive) is caused byStargardt disease
a deficiency in an enzyme called aspartoacylase(passive) is caused byCanavan disease
The death of photoreceptor cells located in the center of the retina ( back of the eyecausesStargardt disease
MutationcausesCanavan disease
This rare variantcausesStargardt Disease
a mistake in one of our genes(passive) is caused byStargardt disease
mutations in the membrane protein , CLN3(passive) caused byBatten disease
seizures , blindness and premature deathcausesseizures , blindness and premature death
progressive deteriorationcausesprogressive deterioration
progressive vision loss and blindnesscausesprogressive vision loss and blindness
all the problems I havewas causingall the problems I have
alsocausesalso
to progressive vision lossleadsto progressive vision loss
dementiacausesdementia
a build up of waste in the muscles , eyes , and braincausesa build up of waste in the muscles , eyes , and brain
the neuronal symptoms(passive) caused bythe neuronal symptoms
brain damagecausesbrain damage
rapidlycausesrapidly
his vision to declinecausedhis vision to decline
a loss of central visioncausesa loss of central vision
his vision to deteriorateis causinghis vision to deteriorate
to reduced central visionleadsto reduced central vision
to depressionleadsto depression
degenerative partial blindnesscausesdegenerative partial blindness
an apparently healthy child to develop epilepsycausesan apparently healthy child to develop epilepsy
progressive brain atrophycausesprogressive brain atrophy
typicallyresultstypically
severe problems with your central visioncan causesevere problems with your central vision
significant problems with central visiondoes causesignificant problems with central vision
to significant loss of central visionleadsto significant loss of central vision
quicklymay ... resultquickly
necrotizing glomerulonephritis with extensive crescent formationcausesnecrotizing glomerulonephritis with extensive crescent formation
to degeneration of his central vision to less than 10 % eyesightledto degeneration of his central vision to less than 10 % eyesight
thereforecan causetherefore
the heartwood to decaycausesthe heartwood to decay
progressive visual impairment , seizures , muscle spasms , difficult sleep , speech and language decline and the general deterioration of fine and gross motor skills , which result in the overall loss of mobilitymay causeprogressive visual impairment , seizures , muscle spasms , difficult sleep , speech and language decline and the general deterioration of fine and gross motor skills , which result in the overall loss of mobility
alsocan ... leadalso
alsocan ... causealso
to developmental delays and some other symptomsleadsto developmental delays and some other symptoms
deathcausingdeath
problems such as glare and difficulties adapting to changing light conditionscan also causeproblems such as glare and difficulties adapting to changing light conditions
an intense ' neuro cry ' in Mabelcausesan intense ' neuro cry ' in Mabel
in at varying rates for each patientsetin at varying rates for each patient
regressioncausingregression
continuing physical and mental deterioration ... and affected children eventually become blind , bedridden and unable to communicatecausescontinuing physical and mental deterioration ... and affected children eventually become blind , bedridden and unable to communicate
problems with light , such as glare and difficulties adapting to changing light conditionscan also causeproblems with light , such as glare and difficulties adapting to changing light conditions
inflammationmay causeinflammation