Spouse of a F508del heterozygote.The L1279L mutation was detected in CFTR gene by DHPLC and direct sequencing. The 27 exons were studied by DHPLC or DGGE. Other heterozygote mutations were detected: G576A, R668C.
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
Paulhac S.
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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
