R765S was observed after a neonatal diagnostic of CF. The other mutation was F508del. The 27 exons were studied by DHPLC or DGGE.The child is 15 months old and is until now in a good health.
Contributors and Institutes
Pasquet M.C.
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Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Baudis M.
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Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
El Seedy A.
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Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Saulnier J.P.
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Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Kitzis A.
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Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Submitted Phenotype Details
Reference
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The Database was last updated at Apr 25, 2011
