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

Ítems similars

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