Normal phenotype with paternal uniparental isodisomy for chromosome 21.

Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, we analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian transl...

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Библиографические подробности
Главные авторы: Blouin, J L, Avramopoulos, D, Pangalos, C, Antonarakis, S E
Формат: Artigo
Язык:Inglês
Опубликовано: 1993
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682298/
https://ncbi.nlm.nih.gov/pubmed/8213833
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