Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II

Clin Genet. 2015 Aug;88(2):195-7. doi: 10.1111/cge.12527. Epub 2014 Nov 22.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Dyserythropoietic, Congenital / diagnosis
  • Anemia, Dyserythropoietic, Congenital / genetics*
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Ethnicity / genetics
  • Female
  • Founder Effect
  • Homozygote
  • Humans
  • India
  • Infant
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Vesicular Transport Proteins / genetics*

Substances

  • SEC23B protein, human
  • Vesicular Transport Proteins