Valentina. Emmanuele, et.al., Fhl1 W122S causes loss of protein function and late-onset mild myopathy., Human molecular genetics, 2015, 24

http://rdf.ncbi.nlm.nih.gov/pubmed/25274776

Valentina. Emmanuele, et.al., Fhl1 W122S causes loss of protein function and late-onset mild myopathy., Human molecular genetics, 2015, 24

pubmed

allele

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

• Fhl1<tm1.1Mihi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5705759

class

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

• Fhl1<tm1.1Mihi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5705759

表現型アノテーション

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

• decreased body weight_Fhl1<tm1.1Mihi>/Y
  http://metadb.riken.jp/0001262IC57BL6JFhl1tm11MihiYFhl1tm11Mihi
• myopathy_Fhl1<tm1.1Mihi>/Y
  http://metadb.riken.jp/0000751IC57BL6JFhl1tm11MihiYFhl1tm11Mihi
• impaired exercise endurance_Fhl1<tm1.1Mihi>/Y
  http://metadb.riken.jp/0012106IC57BL6JFhl1tm11MihiYFhl1tm11Mihi
• decreased grip strength_Fhl1<tm1.1Mihi>/Y
  http://metadb.riken.jp/0010053IC57BL6JFhl1tm11MihiYFhl1tm11Mihi
• centrally nucleated skeletal muscle fibers_Fhl1<tm1.1Mihi>/Y
  http://metadb.riken.jp/0009404IC57BL6JFhl1tm11MihiYFhl1tm11Mihi
• decreased skeletal muscle fiber diameter_Fhl1<tm1.1Mihi>/Y
  http://metadb.riken.jp/0009402IC57BL6JFhl1tm11MihiYFhl1tm11Mihi