Response to Letter to the Editor: “Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency”

Παρόμοια τεκμήρια

• Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency
  ανά: Kolli, Vipula, κ.ά.
  Έκδοση: (2018)
• A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
  ανά: Lara‐Velazquez, Montserrat, κ.ά.
  Έκδοση: (2017)
• High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
  ανά: Lao, Qizong, κ.ά.
  Έκδοση: (2019)
• Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X
  ανά: Kolli, Vipula, κ.ά.
  Έκδοση: (2019)
• Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras
  ανά: Lao, Qizong, κ.ά.
  Έκδοση: (2021)