Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

Ítems similars

• Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
  per: Sjarif, D R, et al.
  Publicat: (1998)
• Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
  per: Sun, Luning, et al.
  Publicat: (2011)
• Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
  per: Uchino, T, et al.
  Publicat: (1992)
• Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
  per: Brooimans, R A, et al.
  Publicat: (1997)
• Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia
  per: Boone, Philip M., et al.
  Publicat: (2011)