Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease

Eitemau Tebyg

• Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
  gan: Zhou, Yu, et al.
  Cyhoeddwyd: (2014)
• Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease
  gan: Qu, Ling-hui, et al.
  Cyhoeddwyd: (2021)
• Novel variants of ABCA4 in Han Chinese families with Stargardt disease
  gan: Hu, Fang-Yuan, et al.
  Cyhoeddwyd: (2020)
• Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing
  gan: Huang, Xiangjun, et al.
  Cyhoeddwyd: (2018)
• Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia
  gan: Ramasamy, Ranjith, et al.
  Cyhoeddwyd: (2015)