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

Ashley P L MarshGaia NovarinoPaul J LockhartRichard J Leventer
Published in: European journal of human genetics : EJHG (2018)
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.
Keyphrases
  • cerebral palsy
  • genome wide
  • copy number
  • botulinum toxin
  • genome wide identification
  • circulating tumor
  • single molecule
  • dna methylation
  • bioinformatics analysis