Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients

Am J Med Genet A. 2003 Apr 30;118A(3):299-301. doi: 10.1002/ajmg.a.10057.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Child, Preschool
  • DNA Helicases / genetics*
  • Diseases in Twins
  • Female
  • Genotype
  • Humans
  • Indians, North American
  • Male
  • Mutation*
  • Neutropenia / ethnology*
  • Neutropenia / genetics*
  • Phenotype
  • RecQ Helicases
  • Rothmund-Thomson Syndrome / ethnology*
  • Rothmund-Thomson Syndrome / genetics*

Substances

  • Adenosine Triphosphatases
  • RECQL4 protein, human
  • DNA Helicases
  • RecQ Helicases

Associated data

  • OMIM/268400
  • OMIM/604173