Heterozygote Detection in Cystinosis, Using Leukocytes Exposed to Cystine Dimethyl Ester

Autor:	Reuben Steinherz, William A. Gahl, Andrea Modesti, F Tietze, Joseph D. Schulman, Timothy J. Triche
Rok vydání:	1982
Předmět:	Male Genetics Autosomal recessive inheritance Genetic Carrier Screening Cystinosis Genetic disorder General Medicine Biology Sulfur Radioisotopes medicine.disease Heterozygote Detection Cystine dimethyl ester Leukocytes medicine Cystine Humans Female Cysteine
Zdroj:	New England Journal of Medicine. 306:1468-1470
ISSN:	1533-4406 0028-4793
DOI:	10.1056/nejm198206173062407
Popis:	CYSTINOSIS, a genetic disorder characterized by autosomal recessive inheritance, typically produces progressive renal disease and death during childhood.1 , 2 Many cystinotic tissues, including iso...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a62738fb962349c16d8f07e1adaa1b https://doi.org/10.1056/nejm198206173062407 Zobrazit plný text záznamu