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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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Detaylı Bibliyografya
Asıl Yazarlar: Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Jr., Milan, Claustres, Mireille, Cutting, Garry R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2004
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181905/
https://ncbi.nlm.nih.gov/pubmed/14685937
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