Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy

Lignende værker

• Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene
  af: Cho, Hyun-Jung, et al.
  Udgivet: (2006)
• Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
  af: Ullah, Muhammad Ikram, et al.
  Udgivet: (2018)
• Mutations in <it>WDR62 </it>gene in Pakistani families with autosomal recessive primary microcephaly
  af: Mir Asif, et al.
  Udgivet: (2011-10-01)
• Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
  af: Kousar, Rizwana, et al.
  Udgivet: (2011)
• Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
  af: Mahmood, Saqib, et al.
  Udgivet: (2011)