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High Frequency of Large Intragenic Deletions in the Fanconi Anemia Group A Gene

Fanconi anemia (FA) is an autosomal recessive disorder exhibiting chromosomal fragility, bone-marrow failure, congenital abnormalities, and cancer. At least eight complementation groups have been described, with group A accounting for 60%–65% of FA patients. Mutation screening of the group A gene (F...

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Bibliografische gegevens
Hoofdauteurs: Morgan, Neil V., Tipping, Alex J., Joenje, Hans, Mathew, Christopher G.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 1999
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288285/
https://ncbi.nlm.nih.gov/pubmed/10521298
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