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

Antzeko izenburuak

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