ABCMdb

PMID: 10330420

Kalin N, Claass A, Sommer M, Puchelle E, Tummler B
DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis.
J Clin Invest. 1999 May 15;103(10):1379-89., 1999-05-15 [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Arg553* ABCC7 p.Gly542* Skin biopsies were taken from the right shoulder of 5 healthy volunteers, 4 ∆F508 homozygous CF patients, and 3 CF patients homozygous for the stop mutations R553X (n = 1) and G542X (n = 2). Login to comment 65 ABCC7 p.Arg553* ABCC7 p.Gly542* Three skin biopsies from patients homozygous for the CFTR stop mutations R553X and G542X and 1 rectal suction biopsy homozygous for an out-of-frame deletion of exons 2 and 3 (biopsy and mutation analysis provided by F. Mekus, Medizinische Hochschule Hannover) that results in a stop in exon 4 were analyzed by CFTR immunohistochemistry 1380 The Journal of Clinical Investigation | May 1999 | Volume 103 | Number 10 Figure 1 CFTR antibodies PAC13, PAC865, MATG1104, and M3A7 detect the characteristic immunoreactive CFTR bands in immunoblot analysis of T84 cells. Login to comment 90 ABCC7 p.Arg553* ABCC7 p.Arg553* (1c) Isotype control: M3A7 was replaced by IgG1κ; (2c) internal negative control: MATG1104 was employed for investigation of skin biopsies from patients with 2 null alleles (R553X/R553X); (3c) preimmune serum: the polyclonal CFTR antibody PAC13 was replaced by the preimmune serum of the same rabbit. Login to comment 133 ABCC7 p.Arg553* ABCC7 p.Gly542* 3a, 3b, 4a, 4b, 5a, 5b: ×6,168. ing was demonstrated by common negative controls and the absence of specific signals in skin biopsies homozygous for the stop mutations G542X and R553X (n = 3). Login to comment