PMID: 16384879

De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M
Cystic fibrosis: terminology and diagnostic algorithms.
Thorax. 2006 Jul;61(7):627-35. Epub 2005 Dec 29., [PubMed]
Sentences
No. Mutations Sentence Comment
303 ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 16384879:303:27
status: NEW
view ABCC7 p.Asp1152His details
 Conversely, a patient with D1152H plus F508del with a sweat chloride level of 45 mmol/l may have escaped early diagnosis and may have had several episodes of lower respiratory tract disease leading to widespread bronchiectasis by the age of 18 years. Login to comment 361 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 16384879:361:28
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 16384879:361:42
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 16384879:361:35
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 16384879:361:53
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 16384879:361:21
status: NEW
view ABCC7 p.Gly542* details
 Examples include the G542X, G551D, R553X, W1282X and N1303K mutations. Login to comment