Clinical utility gene card for Menkes disease

Zeynep Tümer, Leo Klomp

2 Citations (Scopus)
Original languageEnglish
JournalEuropean journal of human genetics : EJHG
Volume19
Issue number10
ISSN1018-4813
DOIs
Publication statusPublished - Oct 2011

Keywords

  • Adenosine Triphosphatases
  • Cation Transport Proteins
  • Copper
  • Female
  • Genetic Diseases, X-Linked
  • Genetic Testing
  • Heterozygote Detection
  • Humans
  • Infant
  • Male
  • Menkes Kinky Hair Syndrome
  • Mutation
  • Sensitivity and Specificity

Cite this