Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

Παρόμοια τεκμήρια

• Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations]
  ανά: Shamsudheen Karuthedath Vellarikkal, κ.ά.
  Έκδοση: (2016-07-01)
• Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
  ανά: Rawat, Amit, κ.ά.
  Έκδοση: (2017)
• Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia [version 2; referees: 2 approved]
  ανά: Amit Rawat, κ.ά.
  Έκδοση: (2017-08-01)
• Pretibial dystrophic epidermolysis bullosa
  ανά: Callegaro, Elisabeth de Albuquerque Cavalcanti, κ.ά.
  Έκδοση: (2017)
• Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess
  ανά: Narayanan, Ranjit, κ.ά.
  Έκδοση: (2017)