Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

Lignende værker

• Treatment of Nonclassic 11-Hydroxylase Deficiency with Ashwagandha Root
  af: Powell, Daniel, et al.
  Udgivet: (2017)
• Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)
  af: Parajes, Silvia, et al.
  Udgivet: (2012)
• A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma
  af: Remde, Hanna, et al.
  Udgivet: (2015)
• High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency
  af: Parajes, Silvia, et al.
  Udgivet: (2008)
• High frequency of nonclassical steroid 21-hydroxylase deficiency.
  af: Speiser, P W, et al.
  Udgivet: (1985)