David E. Sleat, et.al., Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis., Molecular genetics and metabolism, 2008, 94

http://rdf.ncbi.nlm.nih.gov/pubmed/18343701

David E. Sleat, et.al., Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis., Molecular genetics and metabolism, 2008, 94

pubmed

allele

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

• Tpp1<tm1.1Plob>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3795216

表現型アノテーション

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

• tremors_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0000745B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• premature death_Tpp1<tm1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0002083B6129S1Tpp1tm1PlobTpp1tm11PlobTpp1tm1PlobTpp1tm11PlobTpp1tm11PlobTpp1tm1Plob
• abnormal lysosome physiology_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0003172B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• abnormal Purkinje cell morphology_Tpp1<tm1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0000877B6129S1Tpp1tm1PlobTpp1tm11PlobTpp1tm1PlobTpp1tm11PlobTpp1tm11PlobTpp1tm1Plob
• abnormal gait_Tpp1<tm1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0001406B6129S1Tpp1tm1PlobTpp1tm11PlobTpp1tm1PlobTpp1tm11PlobTpp1tm11PlobTpp1tm1Plob
• abnormal lysosome physiology_Tpp1<tm1.1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0003172B6129S1Tpp1tm11PlobTpp1tm11PlobTpp1tm11PlobTpp1tm11Plob
• tremors_Tpp1<tm1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0000745B6129S1Tpp1tm1PlobTpp1tm11PlobTpp1tm1PlobTpp1tm11PlobTpp1tm11PlobTpp1tm1Plob
• premature death_Tpp1<tm1.1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0002083B6129S1Tpp1tm11PlobTpp1tm11PlobTpp1tm11PlobTpp1tm11Plob
• premature death_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0002083I129S1SvTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• abnormal gait_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0001406B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• abnormal Purkinje cell morphology_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0000877B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• abnormal brain morphology_Tpp1<tm1.1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0002152B6129S1Tpp1tm11PlobTpp1tm11PlobTpp1tm11PlobTpp1tm11Plob
• ataxia_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0001393B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• short stride length_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0001407B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• abnormal lysosome physiology_Tpp1<tm1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0003172B6129S1Tpp1tm1PlobTpp1tm11PlobTpp1tm1PlobTpp1tm11PlobTpp1tm11PlobTpp1tm1Plob
• short stride length_Tpp1<tm1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0001407B6129S1Tpp1tm1PlobTpp1tm11PlobTpp1tm1PlobTpp1tm11PlobTpp1tm11PlobTpp1tm1Plob
• premature death_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0002083B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• ataxia_Tpp1<tm1Plob>/Tpp1<tm1.1Plob>
  http://metadb.riken.jp/0001393B6129S1Tpp1tm1PlobTpp1tm11PlobTpp1tm1PlobTpp1tm11PlobTpp1tm11PlobTpp1tm1Plob
• abnormal brain morphology_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0002152B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob
• abnormal lysosome morphology_Tpp1<tm1Plob>/Tpp1<tm1Plob>
  http://metadb.riken.jp/0005058B6129S1Tpp1tm1PlobTpp1tm1PlobTpp1tm1PlobTpp1tm1Plob

class

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

• Tpp1<tm1.1Plob>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3795216