Six ALPL gene variants in five children with hypophosphatasia

Lignende værker

• Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia
  af: Raquel Sanabria-de la Torre, et al.
  Udgivet: (2022-04-01)
• Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders
  af: Dahir, Kathryn M, et al.
  Udgivet: (2018)
• Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL)
  af: Tilden, Daniel R, et al.
  Udgivet: (2020)
• Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
  af: Bisgin, Atil, et al.
  Udgivet: (2020)
• A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia
  af: Kyöstilä, Kaisa, et al.
  Udgivet: (2019)