PMID: 10933918

Noone PG, Hohneker KW, Zhou Z, Johnson LG, Foy C, Gipson C, Jones K, Noah TL, Leigh MW, Schwartzbach C, Efthimiou J, Pearlman R, Boucher RC, Knowles MR
Safety and biological efficacy of a lipid-CFTR complex for gene transfer in the nasal epithelium of adult patients with cystic fibrosis.
Mol Ther. 2000 Jan;1(1):105-14., [PubMed]
Sentences
No. Mutations Sentence Comment
55 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10933918:55:418
status: NEW
view ABCC7 p.Asn1303Lys details
 A nasal scrape biopsy was done TABLE 1 Study Subjects Who Completed the Protocol Subject Age (years) Gender Genotype FEV1 (% pred)a 1 19 Male ⌬F 508/2183delAA-G 101 2 37 Female ⌬F 508/⌬F 508 48 3 35 Female ⌬F 508/⌬F 508 74 4 24 Male ⌬F 508/711 ϩ 1 G Ͼ T 69 5 19 Male ⌬F 508/2183delAA-G 103 6 43 Female ⌬F 508/⌬F 508 55 7 48 Male ⌬F 508/N1303K 48 8 26 Female ⌬F 508/⌬F 508 80 9 28 Male ⌬F 508/⌬F 508 53 10 29 Female ⌬F 508/⌬F 508 42 11 37 Female ⌬F 508/unknown 115 a Subjects were required to have an FEV1 greater than 40% predicted, basal PD Ͼ -30 mV, with absent CFTR-mediated Cl- con- ductance. on days 3 (along the medial surface of the inferior turbinate) and 5 (under the inferior turbinate) and optionally on days 9 Ϯ 2 and 28 Ϯ 2. Login to comment 67 ABCC7 p.Pro841Phe
X
ABCC7 p.Pro841Phe 10933918:67:222
status: NEW
view ABCC7 p.Pro841Phe details
 Primers used for plasmid-specific CFTR cDNA (RT-PCR) were 5Ј-TTGACCTCCATAGAAGACACC (first round; P801F), 5Ј-ATCCGGGTCATAGGAAGCTATGATTC (first round; CF468R), 5Ј-CCTCGAAGCTTCGACTCTAG (nested second round; P841F), and 5Ј-GAAGCCAGCTCTCTATCCCA (nested second round; CF320R). Login to comment