ABCC7 p.Gln353*

ClinVar: c.1059A>C , p.Gln353His ? , not provided
c.1057C>T , p.Gln353* ? , not provided
CF databases: c.1059A>C , p.Gln353His (CFTR1) ? , This mutation was found by DGGE and direct sequencing in Caucasian patients.

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[hide] Castellani C, Malerba G, Sangalli A, Delmarco A, Petrelli E, Rossini M, Assael BM, Mottes M
The genetic background of osteoporosis in cystic fibrosis: association analysis with polymorphic markers in four candidate genes.
J Cyst Fibros. 2006 Dec;5(4):229-35. Epub 2006 May 18., [PMID:16713399]

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[hide] Ettorre M, Verze G, Caldrer S, Johansson J, Calcaterra E, Assael BM, Melotti P, Sorio C, Buffelli M
Electrophysiological evaluation of cystic fibrosis conductance transmembrane regulator (CFTR) expression in human monocytes.
Biochim Biophys Acta. 2014 Oct;1840(10):3088-95. doi: 10.1016/j.bbagen.2014.07.010. Epub 2014 Jul 18., [PMID:25046381]

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