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MS, KE and ML carried out the mutation analyses and interpreted the mutation data.
Author 4 conceived of the study, evaluated the immunohistochemistry, the MSI and the mutation analyses, and coordinated the results.
Additional characterization of their binding elements through mutation analyses and reporter assays should further validate the assignment.
Mutation analyses and candidate gene association studies attempted to elucidate rare or common variants associated with the disorder.
The authors thank Pauline Chu for immunohistology assistance, Farbod Babrzadeh for assistance with the PIK3CA mutation analyses, and Kyra Heirich for help with manuscript review.
Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal anhidrotic ectodermal dysplasia (ED1) in these species.
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In the MOSCATO01 study in which similar high-throughput technologies were used, the success rates were 88% for mutations analyses and 84% for gene copy number alteration analyses, respectively (Hollebecque et al, 2013).
The list of the mutations analysed and their associated clinical phenotype are shown in Supplementary Material, Table S1.
MDS participated in the design of the family study, provided subject epidemiologic data, and helped carry out mutation analyses of BRCA1 and BRCA2 in the subjects.
Its location at chromosome 16p11.2, made it an excellent candidate gene to explain previously established genetic linkage to the same chromosomal region in multiple ALS families [ 137, 139] and mutation analyses of patients in these and other families identified FUS mutations [ 80].
All mutation analyses included positive and negative controls for the mutation, confirmed by sequencing (fig. 2).
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