ABCMdb

PMID: 15463923

Mendes F, Doucet L, Hinzpeter A, Ferec C, Lipecka J, Fritsch J, Edelman A, Jorna H, Willemsen R, Bot AG, De Jonge HR, Hinnrasky J, Castillon N, Taouil K, Puchelle E, Penque D, Amaral MD
Immunohistochemistry of CFTR in native tissues and primary epithelial cell cultures.
J Cyst Fibros. 2004 Aug;3 Suppl 2:37-41., [PubMed]

Sentences

No. Mutations Sentence Comment

90 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* Furthermore, tissues from CF patients carrying two nonsense mutations, e.g., R553X, G542X, and W1282X, can represent the golden-standard negative control, as no full-length CFTR protein is produced in these cells. Login to comment 91 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* Furthermore, tissues from CF patients carrying two nonsense mutations, e.g., R553X, G542X, and W1282X, can represent the golden-standard negative control, as no full-length CFTR protein is produced in these cells. Login to comment