Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family

Παρόμοια τεκμήρια

• Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
  ανά: Jung, Jiwon, κ.ά.
  Έκδοση: (2020)
• Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
  ανά: Xu, Pengcheng, κ.ά.
  Έκδοση: (2020)
• Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
  ανά: Wu, Xia, κ.ά.
  Έκδοση: (2018)
• Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
  ανά: Bergmann, C, κ.ά.
  Έκδοση: (2005)
• Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
  ανά: Gao, Xue, κ.ά.
  Έκδοση: (2013)