Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome

Clin Genet. 2014 Nov;86(5):502-3. doi: 10.1111/cge.12319. Epub 2013 Dec 1.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Codon / genetics*
  • DNA Helicases / chemistry*
  • DNA Helicases / genetics*
  • Family
  • Humans
  • Mental Retardation, X-Linked / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nuclear Proteins / chemistry*
  • Nuclear Proteins / genetics*
  • Phenotype
  • Protein Structure, Tertiary
  • Sequence Alignment
  • X-linked Nuclear Protein
  • alpha-Thalassemia / genetics*

Substances

  • Codon
  • Nuclear Proteins
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein

Supplementary concepts

  • ATR-X syndrome