Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes.
Pediatrics
; 56(3): 429-33, 1975 Sep.
Article
em En
| MEDLINE
| ID: mdl-808791
ABSTRACT
Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake of 35SO4, is measured.
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Base de dados:
MEDLINE
Assunto principal:
Mucopolissacaridose II
/
Heterozigoto
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1975
Tipo de documento:
Article