Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

Podobné jednotky

• Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
  Autor: Zhang, Jianping, a další
  Vydáno: (2016)
• Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease
  Autor: Hao, Xiao-Dan, a další
  Vydáno: (2020)
• Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
  Autor: Xi, Quansheng, a další
  Vydáno: (2009)
• Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva
  Autor: Deng, Yongqiong, a další
  Vydáno: (2018)
• Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature
  Autor: Qin, Zailong, a další
  Vydáno: (2020)