Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis

অনুরূপ উপাদানগুলি

• Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series
  অনুযায়ী: Long, Xigui, অন্যান্য
  প্রকাশিত: (2019)
• Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
  অনুযায়ী: Kondo, Yukiko, অন্যান্য
  প্রকাশিত: (2013)
• Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1
  অনুযায়ী: Linpeng, Siyuan, অন্যান্য
  প্রকাশিত: (2018)
• A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family
  অনুযায়ী: Wang, Kai Jie, অন্যান্য
  প্রকাশিত: (2011)
• A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family
  অনুযায়ী: Yu, Yibo, অন্যান্য
  প্রকাশিত: (2014)