CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

Ashley P. L. Marsh,Gaia Novarino,Paul J. Lockhart,Richard J. Leventer

EUROPEAN JOURNAL OF HUMAN GENETICS（2018）

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摘要

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.

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关键词

Diseases of the nervous system,Genetics research,Medical genetics,Neurodevelopmental disorders,Neurological disorders,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics

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