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The implications for prevention of CF and other rare Mendelian diseases through such surveys of mutation screening are discussed.

The primer sequences for DCPS (NM_014026) mutation screening are given in Supplementary Material, Table S2.

The primers used for TP53 mutation screening are listed in Table S1.

The results of G388R mutation screening are summarised in Table 2 >.

Recommendations on the reference sequence to be used for analysis and for the extent of the initial mutation screening are provided in table 1.

Although the clinical benefits of mutation screening are controversial, 4 distinguishing between sporadic and familial cases appears to be important to many patients and their relatives, 3 and NAPOS therefore offers, in hereditary cases, predictive genetic testing and counselling to at-risk adult family members.

Similar(54)

Mutation screening was performed for known FHM-related genes.

Mutation screening was performed by direct DNA sequencing of PCR products.

Mutation screening was performed by direct sequencing of the PCR products.

Furthermore, bcr/abl mutation screening was performed using allele specific oligonucleotide polymerase chain reaction (ASO-PCR) methods previously described [20].

PIK3CA mutation screening was performed on cDNA fragments obtained by RT-PCR amplification of exons 9 and 20 and their flanking exons.

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