regulator (CFTR) mutations identified among the 317 CF cases in cases The dates were chosen to define an interval during GENETICS in MEDICINE Volume 19 Number 10 October 2017 1159 250 mutations in August 2015, and categorized them into (2 cases) or was not in the CFTR2 list at all (55 cases) An
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[PDF] List of CFTR2 mutations Date: 13 August 2015 Number of patients in
CFTR2 mutation list - 13 August 2015 - Page 1 of 10 List of CFTR2 mutations Date: 13 August 2015 Number of patients in CFTR2: 88,664 Mutation cDNA
[PDF] List of CFTR2 mutations Date: 27 February 2015 Number of patients
CFTR2 mutation list – 27 February 2015 – Page 1 of 6 Permitted use available to clinicians, Date: 27 February 2015 Number of patients in CFTR2: 39,696
Genomic sequencing in cystic fibrosis newborn screening - Nature
regulator (CFTR) mutations identified among the 317 CF cases in cases The dates were chosen to define an interval during GENETICS in MEDICINE Volume 19 Number 10 October 2017 1159 250 mutations in August 2015, and categorized them into (2 cases) or was not in the CFTR2 list at all (55 cases) An
[PDF] Kalydeco, INN-ivacaftor - European Medicines Agency - europaeu
24 sept 2015 · List of abbreviations ANCOVA CFTR allele with both an R117H mutation and a 5T poly-T variant R117H-7T Submission date 11 July Due to the small number of CF patients with an R117H-CFTR mutation who have
[PDF] Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse
5 nov 2015 · Received 10 August 2015; accepted revised manuscript 20 October the national CF patient registry maintained by the Cystic Fibrosis test results, date of sweat test, specialty care center, and CFTR mu- Table 2 shows the number of mutations on the NYS panel and on Table S3 lists all mutations
[PDF] Comprehensive mapping of Cystic Fibrosis mutations to CFTR
2 jan 2018 · Methods: Exonic CFTR mutations and mutant allele frequencies To date, over 2000 disease- 10 novel small molecule therapies for CF patients bearing the F508del and CFTR1 and CFTR2 mutation databases provided a detailed list of respectively, which allowed for mutation counts (i e number of
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