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Значения термина friedreich ataxia на английском

русский
атаксия фридрейха
португальский
ataxia de friedreich
испанский
ataxia de friedreich
каталонский
atàxia familiar

Human disease.

атаксия фридрейха
Использование термина friedreich ataxia на английском
1
The Friedreich ataxia phenotype is the most frequent clinical presentation.
Pubmed
2
Friedreich ataxia (FA) is an autosomal recessive degenerative disease of the nervous system of unknown biochemical cause.
Pubmed
3
Reduced expression of a mitochondrial protein called frataxin causes a neurodegenerative disorder named Friedreich Ataxia, which decreases life span in humans.
Pubmed
4
We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15.
Pubmed
5
Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning.
Pubmed