PMID: 19033671

Coakley RD, Sun H, Clunes LA, Rasmussen JE, Stackhouse JR, Okada SF, Fricks I, Young SL, Tarran R
17beta-Estradiol inhibits Ca2+-dependent homeostasis of airway surface liquid volume in human cystic fibrosis airway epithelia.
J Clin Invest. 2008 Dec;118(12):4025-35. doi: 10.1172/JCI33893. Epub 2008 Nov 20., [PubMed]
Sentences
No. Mutations Sentence Comment
282 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 19033671:282:193
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 19033671:282:351
status: NEW
view ABCC7 p.Asn1303Lys details
 Five patients were homozygous for ΔF508, 2 patients carried 1 copy of ΔF508 with an unidentified mutation on the other allele, 1 patient carried 1 copy of ΔF508 and 1 copy of R117H, 1 patient carried 1 copy of ΔF508 and  1 copy of 2789+5G→A, and 1 patient carried 1 copy of 1717-1G→A and  1 copy of N1303K. Login to comment