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CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Jan; Vol. 27 (1), pp. 161-166. Date of Electronic Publication: 2018 Aug 08. - Publication Year :
- 2019
-
Abstract
- 1. NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# OF THE DISEASE: 615809 and 615686. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: AMPD2 at 1p13.3. 4. OMIM# OF THE GENE(S): 102771.
Details
- Language :
- English
- ISSN :
- 1476-5438
- Volume :
- 27
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 30089829
- Full Text :
- https://doi.org/10.1038/s41431-018-0231-2