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There are multiple forms of hereditary amyloidosis.
This article characterises the families enrolled in the QPP and summarises monogenic forms of hereditary Parkinsonism found in the register.
The authors wanted to investigate whether additional, more severe, mutations in the 11-cis retinol dehydrogenase gene might be responsible for more severe forms of hereditary retinal diseases.
Finally, many proteins involved in shaping the ER network are mutated in the most common forms of hereditary spastic paraplegia, indicating a particular importance for proper ER morphology and distribution in large, highly-polarized cells such as neurons.
Many forms of hereditary deafness are caused by morphological defects of the stereocilia bundles on the apical surfaces of inner ear hair cells, which are responsible for sound detection.
Future investigations should evaluate whether the abnormalities we observed are stable or, conversely, whether they change over time, the factors influencing these changes, and, finally, whether they are specific of LHON or shared among other forms of hereditary optic neuropathy.
Similar(31)
Thus, progressive retinal atrophy, a form of hereditary blindness, is caused in different breeds by a mutation to any one of at least seven different genes, according to Dr. Gustavo Aguirre, a professor of ophthalmology at Cornell's Baker Institute.
Hopes that an anti-inflammtory drug might prevent a form of hereditary colon cancer by thwarting it in its precancerous stages in young people are dimming with the publication of new research results.
Biologically, the function of DNA is to code functional proteins that are the expressed form of hereditary information.
Biologically, the function of DNA is to code functional proteins that are the expressed form of hereditary, genetic information.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder caused by mutations in the NOTCH3 gene.
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