Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander dis...
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
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London: BioMed Central Ltd
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Language
English
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London: BioMed Central Ltd
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Background Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into three distinguishable subgroups: infantile, juvenile, and adult-onset types. Objective The aim of this study is to report a novel variant causing AxD and collect all the associated...
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Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
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TN_cdi_doaj_primary_oai_doaj_org_article_d2c6d88c908643f38a0f019c530ddd3a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d2c6d88c908643f38a0f019c530ddd3a
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ISSN
2047-783X,0949-2321
E-ISSN
2047-783X
DOI
10.1186/s40001-022-00799-5
