Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.

Ítems similars

• Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.
  per: Tarleton, J, et al.
  Publicat: (1992)
• Experience with direct molecular diagnosis of fragile X.
  per: Mulley, J C, et al.
  Publicat: (1992)
• Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
  per: Heitz, D, et al.
  Publicat: (1992)
• Medical genetics: advances in brief: Detection of full fragile X mutation
  per: Reardon, Willie
  Publicat: (1992)
• Molecular heterogeneity of the fragile X syndrome.
  per: Nakahori, Y, et al.
  Publicat: (1991)