Homozygous PLA2G6 (PARK 14) gene mutation associated neuropsychiatric phenotypes from southern India
Copyright © 2021 Elsevier Ltd. All rights reserved..
PLA2G6 gene associated neurodegenerative disorders resulting from homozygous c. 2222G > A (p.Arg741Gln) mutation were detected in two cases having variable neuropsychiatric phenotypic and imaging findings. Exome analysis helped identification of rare alleles, reinforcing ethnographic antecedents to geographical clustering of rare mutations and, essential to understanding biology of neurodegenerative disorders.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:90 |
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| Enthalten in: |
Parkinsonism & related disorders - 90(2021) vom: 01. Sept., Seite 49-51 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Sakhardande, Kasturi Atmaram [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Completed 11.02.2022 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.parkreldis.2021.07.026 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM329093649 |
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| 520 | |a PLA2G6 gene associated neurodegenerative disorders resulting from homozygous c. 2222G > A (p.Arg741Gln) mutation were detected in two cases having variable neuropsychiatric phenotypic and imaging findings. Exome analysis helped identification of rare alleles, reinforcing ethnographic antecedents to geographical clustering of rare mutations and, essential to understanding biology of neurodegenerative disorders | ||
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| 700 | 1 | |a Mangalore, Sandhya |e verfasserin |4 aut | |
| 700 | 1 | |a Yadav, Ravi |e verfasserin |4 aut | |
| 700 | 1 | |a Jain, Sanjeev |e verfasserin |4 aut | |
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