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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in ∼10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, o...
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Asıl Yazarlar: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
The American Society of Human Genetics
2004
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1181905/ https://ncbi.nlm.nih.gov/pubmed/14685937 |
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