Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Lignende værker

• The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
  af: Torella, Annalaura, et al.
  Udgivet: (2020)
• Novel mutations in LMNA A/C gene and associated phenotypes
  af: Petillo, Roberta, et al.
  Udgivet: (2015)
• A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
  af: Claudia Santoro, et al.
  Udgivet: (2020-09-01)
• A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
  af: Santoro, Claudia, et al.
  Udgivet: (2020)
• Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene
  af: TAGLIA, ANTONELLA, et al.
  Udgivet: (2015)