A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

Παρόμοια τεκμήρια

• Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
  ανά: Lei Kong, κ.ά.
  Έκδοση: (2018-01-01)
• Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
  ανά: Kong, Lei, κ.ά.
  Έκδοση: (2018)
• X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.
  ανά: MacKenzie, J J, κ.ά.
  Έκδοση: (1996)
• A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda
  ανά: Tiller, George E., κ.ά.
  Έκδοση: (2001)
• X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
  ανά: Ryu, Hyejin, κ.ά.
  Έκδοση: (2012)