A homozygous mutation in the APP gene with a dominant-negative effect on amyloidogenesis was found in 1 patient with an early-onset progressive dementia and his ...
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A number sign (#) is used with this entry because early-onset familial Alzheimer disease-3 (AD3) is caused by heterozygous mutation in the presenilin-1 gene ( ...
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Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia.
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Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...
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Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...
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Symptoms of alzheimer's disease
For informational purposes only. Consult your local medical authority for advice.
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...
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(2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without ...
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as ...
Mutations in the SLC52A3 gene also result in Fazio-Londe disease (211500), a disorder similar to BVVLS but without sensorineural deafness. ▽ Description. Brown ...