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Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.

An accurate diagnosis of heterozygotes for autosomal recessive disorders with unknown mutations can be difficult. Using a unique phenomenon occurring in vivo, we designed a method for the diagnosis of heterozygotes for adenine phosphoribosyltransferase (APRT) deficiency which makes way for a qualita...

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Сохранить в:
Библиографические подробности
Главные авторы: Hakoda, M, Yamanaka, H, Kamatani, N
Формат: Artigo
Язык:Inglês
Опубликовано: 1991
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682998/
https://ncbi.nlm.nih.gov/pubmed/1998341
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