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Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Maternal isodisomy for chromosome 7 was observed in a 4-year-old cystic fibrosis patient with very short stature. In an examination of 11 DNA polymorphisms spanning the entire length of chromosome 7, no paternal contribution could be shown in seven informative loci. Paternity was examined with probe...

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Detalhes bibliográficos
Main Authors: Voss, R, Ben-Simon, E, Avital, A, Godfrey, S, Zlotogora, J, Dagan, J, Tikochinski, Y, Hillel, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683410/
https://ncbi.nlm.nih.gov/pubmed/2570528
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