ABCMdb

PMID: 16362824

Hantash FM, Redman JB, Starn K, Anderson B, Buller A, McGinniss MJ, Quan F, Peng M, Sun W, Strom CM
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
Hum Genet. 2006 Mar;119(1-2):126-36. Epub 2005 Dec 17., [PubMed]

Sentences

No. Mutations Sentence Comment

94 ABCC7 p.Ile285Phe (The mother harbored an I285F novel Fig. 1 a Average ratio of area under peak of each fragment to Factor 2 (F2, white bars), Factor 5 (F5, gray bars), and hexosamindase (TS, black bars). Login to comment 122 ABCC7 p.Gly542* DNA from patient 5, a 4-month-old Ashkenazi Jewish infant with severe CF, harbored two point mutations: G542X (in Fig. 2 a Detection of a deletion of exons 17a-18 in a patient (b) and her father (c). Login to comment 124 ABCC7 p.Ser1235Arg The asterisk indicates the presence in the proband of the F508del mutation (3 bp deletion of the faster migrating band) exon 11) and S1235R (in exon 19). Login to comment 125 ABCC7 p.Ser1235Arg The severity of the S1235R mutation is not well established (Monaghan, 2000; Castellani, 2001; Reboul, 2003). Login to comment 127 ABCC7 p.Gly542* The early onset of severe CF phenotype in the 4-month-old patient is likely the result of the G542X and the deletion of exons 4-6. Login to comment