Article: Final Exon Frameshift Biallelic
2021 Volume 11, Issue 5
Abstract: The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as 'pure' when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and 'complex' when associated ... ...
| Abstract | The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as 'pure' when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and 'complex' when associated with other clinical signs. Here, we identify a homozygous frameshift alteration occurring in the last coding exon of the protein tyrosine phosphatase type 23 ( |
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| Language | English |
| Publishing date | 2021-05-11 |
| Publishing country | Switzerland |
| Document type | Journal Article |
| ZDB-ID | 2651993-8 |
| ISSN | 2076-3425 |
| ISSN | 2076-3425 |
| DOI | 10.3390/brainsci11050614 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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