PMID: 16207791

Song Y, Salinas D, Nielson DW, Verkman AS
Hyperacidity of secreted fluid from submucosal glands in early cystic fibrosis.
Am J Physiol Cell Physiol. 2006 Mar;290(3):C741-9. Epub 2005 Oct 5., [PubMed]
Sentences
No. Mutations Sentence Comment
90 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 16207791:90:149
status: NEW
view ABCC7 p.Gly542* details
 Clinical characteristics of study subjects CF Subjects Age, Sex Genotype FEV1 Shwachman Brasfield CF1 13, F ⌬F508 - E60X 117% 85 22 CF2 22, M G542X - unknown 58% 70 15 CF3 10, M ⌬F508 - unknown 99% 80 23 CF4 20, M ⌬F508 - ⌬F508 71% 90 23 CF5 16, F ⌬F508 - unknown 79% 65 15 CF6 16, M ⌬F508 - ⌬F508 115% 75 19 Non-CF Subjects Age, Sex Diagnosis Procedure N1 3, F OSA T & A N2 2, M OSA T & A N3 10, F Recurrent tonsillitis T & A N4 10, M Recurrent tonsillitis Tonsillectomy N5 13, M Chronic cough T & A and BAL N6 4, M OSA T & A N7 6, F Recurrent tonsillitis T & A N8 3, M OSA T & A CF, cystic fibrosis; N, non-CF; OSA, obstructive sleep apnea; T & A, tonsillectomy and adenoidectomy; BAL, bronchoalveolar lavage; FEV1, forced expiratory volume in the first second. Login to comment 124 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 16207791:124:138
status: NEW
view ABCC7 p.Gly542* details
 Genotype analysis showed that all subjects carried at least one copy of the ⌬F508 gene, except for one subject, whose genotype was G542X/ unknown. Login to comment