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Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester.

AuthorsR Steinherz, F Tietze, T Triche, A Modesti, W A Gahl, J D Schulman
JournalThe New England journal of medicine (N Engl J Med) Vol. 306 Issue 24 Pg. 1468-70 (Jun 17 1982) ISSN: 0028-4793 [Print] United States
PMID7078591 (Publication Type: Journal Article)
Chemical References
  • Sulfur Radioisotopes
  • Cystine
  • Cysteine
  • cystine dimethyl ester
Topics
  • Cysteine (metabolism)
  • Cystine (analogs & derivatives, metabolism)
  • Cystinosis (diagnosis, genetics)
  • Female
  • Genetic Carrier Screening (methods)
  • Humans
  • Leukocytes (metabolism)
  • Male
  • Sulfur Radioisotopes

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