Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

Παρόμοια τεκμήρια

• Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
  ανά: Huang, Li, κ.ά.
  Έκδοση: (2021)
• Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
  ανά: Kim, Yong Hoon, κ.ά.
  Έκδοση: (2020)
• Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing
  ανά: Nikkhah, Emad, κ.ά.
  Έκδοση: (2018)
• Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9)
  ανά: Knockenhauer, Kevin E., κ.ά.
  Έκδοση: (2015)
• Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
  ανά: Morisada, Naoya, κ.ά.
  Έκδοση: (2020)