PMID: 18728376

Kim SJ, Lee M, Cha SI, Park HY, Ahn KM, Ki CS, Kim JH
[Standardized sweat chloride analysis for the diagnosis of cystic fibrosis in Korea].
Korean J Lab Med. 2008 Aug;28(4):274-81., [PubMed]
Sentences
No. Mutations Sentence Comment
51 ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 18728376:51:423
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 18728376:51:418
status: NEW
view ABCC7 p.Gln98Arg details
 Healthy volunteer No. case Sex Age (yr) Sweat chloride concentration (mmol/L) Right (repeated result)/Left (repeated result) Respiratory symptoms* Gastro-intestinal symptoms � Genetic analysis 1 � F 13 108.1 (105.9)/169.1 (87.5) + + Compound heterozygote (X1291/5T-V470) 2 � F 5 97.5 (75.4)/92.4 (79.5) + - Polymorphism (2694T/G) 3 � M 15 73.7 (66.2)/29.5 (59.9) + - Compound heterozygote (Q98R/Q220X) 4 F 17 99.3/105.6 + - Compound heterozygote (delEx14A/IVS17a-26A>G) Table 2. The clinical features of patients with high sweat chloride concentrations *Cough, sputum, etc; � , diarrhea, steatorrhea, etc. Login to comment 167 ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 18728376:167:106
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 18728376:167:97
status: NEW
view ABCC7 p.Gln98Arg details
 Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY. Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene. Login to comment