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Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.

Pubmed ID: 21275958

Authors

  • Hammill AM
  • Risinger MA
  • Joiner CH
  • Keddache M
  • Kalfa TA

Journal

British journal of haematology

Publication Data

March 31, 2011

Associated Grants

  • Agency: NHLBI NIH HHS, Id: K08 HL088126
  • Agency: NHLBI NIH HHS, Id: K08 HL088126
  • Agency: NHLBI NIH HHS, Id: K08 HL088126-03

Mesh Terms

  • Base Sequence
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Membrane Proteins
  • Molecular Sequence Data
  • Mutation
  • Spherocytosis, Hereditary