Article ; Online: Heterozygous deletion in exon 6 of
BMJ case reports
2021 Volume 14, Issue 6
Abstract: Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of ... ...
Abstract | Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the |
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MeSH term(s) | Adult ; Apraxias/genetics ; Ataxia ; Cerebellar Ataxia/genetics ; DNA Helicases ; Exons/genetics ; Female ; Humans ; Multifunctional Enzymes ; RNA Helicases/genetics ; Spinocerebellar Ataxias/congenital ; Young Adult |
Chemical Substances | Multifunctional Enzymes ; SETX protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-) ; RNA Helicases (EC 3.6.4.13) |
Language | English |
Publishing date | 2021-06-30 |
Publishing country | England |
Document type | Case Reports ; Journal Article |
ISSN | 1757-790X |
ISSN (online) | 1757-790X |
DOI | 10.1136/bcr-2021-241767 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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