Annachiara. De Sandre-Giovannoli, et.al., Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse., American journal of human genetics, 2002, 70

http://rdf.ncbi.nlm.nih.gov/pubmed/11799477

Annachiara. De Sandre-Giovannoli, et.al., Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse., American journal of human genetics, 2002, 70

pubmed

表現型アノテーション

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

• abnormal sciatic nerve morphology_Lmna<tm1Stw>/Lmna<tm1Stw>
  http://metadb.riken.jp/0002651I129S1SvLmnatm1StwLmnatm1StwLmnatm1Stw
• abnormal myelination_Lmna<tm1Stw>/Lmna<tm1Stw>
  http://metadb.riken.jp/0000920I129S1SvLmnatm1StwLmnatm1StwLmnatm1Stw
• abnormal axon morphology_Lmna<tm1Stw>/Lmna<tm1Stw>
  http://metadb.riken.jp/0005404I129S1SvLmnatm1StwLmnatm1StwLmnatm1Stw