Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing

פריטים דומים

• Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors
  מאת: Wu, Yuan, et al.
  יצא לאור: (2019)
• Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease
  מאת: Xiang, Qin, et al.
  יצא לאור: (2019)
• Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy
  מאת: Xiang, Qin, et al.
  יצא לאור: (2019)
• Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
  מאת: Hao Deng, et al.
  יצא לאור: (2016-01-01)
• Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing
  מאת: Deng, Hao, et al.
  יצא לאור: (2016)