Gregory B. Potter, et.al., Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease., Human molecular genetics, 2013, 22

http://rdf.ncbi.nlm.nih.gov/pubmed/23620143

Gregory B. Potter, et.al., Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease., Human molecular genetics, 2013, 22

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• premature death_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0002083BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• abnormal spinal cord morphology_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0000955BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• abnormal corpus callosum morphology_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0000780BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• weakness_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0000746BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• slow postnatal weight gain_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0008489BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• abnormal leukocyte morphology_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0008246BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• tremors_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0000745BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• astrocytosis_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0003354BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• abnormal axon morphology_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0005404BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• gliosis_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0002183BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• demyelination_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0000921BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J
• decreased body size_Galc<twi-5J>/Galc<twi-5J>
  http://metadb.riken.jp/0001265BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J