Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia


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Smith B. N., Evans C., Ali A., Ancliff P. J., Hayee B., Segal A. W., ...More

BRITISH JOURNAL OF HAEMATOLOGY, vol.158, no.1, pp.146-149, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Letter
  • Volume: 158 Issue: 1
  • Publication Date: 2012
  • Doi Number: 10.1111/j.1365-2141.2012.09110.x
  • Journal Name: BRITISH JOURNAL OF HAEMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.146-149
  • Keywords: severe congenital neutropenia, molecular diagnosis, DNA mutation, G6PC3, recessive, HAX1
  • Gazi University Affiliated: Yes