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Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1...

Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a27e58d88c1d486590d2ed96a7e1d8fb

Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report

About this item

Full title

Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report

Publisher

England: BioMed Central Ltd

Journal title

BMC neurology, 2017-08, Vol.17 (1), p.153-153, Article 153

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson's Disease (EOPD). PINK1 mutations are the second commonest cause of EOPD. Specific mutations may be relatively common in certain populations because of a founder effect. Homozygous p.A217D PINK1 mutati...

Alternative Titles

Full title

Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_a27e58d88c1d486590d2ed96a7e1d8fb

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a27e58d88c1d486590d2ed96a7e1d8fb

Other Identifiers

ISSN

1471-2377

E-ISSN

1471-2377

DOI

10.1186/s12883-017-0933-z

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