Yaqun. Zou, et.al., Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice., Human molecular genetics, 2014, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/24334604

Yaqun. Zou, et.al., Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice., Human molecular genetics, 2014, 23

pubmed

表現型アノテーション

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

• abnormal sarcolemma morphology_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0004121NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• limb grasping_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0001513NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• abnormal skeletal muscle morphology_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0000759NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• decreased skeletal muscle weight_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0010239NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• decreased grip strength_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0010053NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• abnormal vertebral spinous process morphology_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0004601NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• kyphoscoliosis_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0000069NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• abnormal quadriceps morphology_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0010225NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi
• abnormal muscle physiology_Col12a1<tm1Debi>/Col12a1<tm1Debi>
  http://metadb.riken.jp/0002106NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi