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CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Authors :
Marsh APL
Novarino G
Lockhart PJ
Leventer RJ
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