ABCMdb

PMID: 16046196

Trevisiol C, Boniotto M, Giglio L, Poli F, Morgutti M, Crovella S
MBL2 polymorphisms screening in a regional Italian CF Center.
J Cyst Fibros. 2005 Sep;4(3):189-91., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1070Gln ABCC7 p.Ser466* Table 4 CFTR and MBL2 genotypes CFTR genotypes MBL2 genotypes AA A0 00 Severe/Severe CFTR genotype deltaF508/deltaF508 (20) 10 8 2 deltaF508/N1303K (1) 0 1 0 deltaF508/621+1GYT (3) 2 1 0 1717-1GYA/1717-1GYA (1) 1 0 0 deltaF508/1677delTA (1) 1 0 0 G542X/G542X (1) 0 1 0 deltaF508/1717-1GYA (1) 0 1 0 Total 28 14 12 2 Mild; unknown/unknown CFTR genotype R1162X/2789+5GYA (6) 3 3 0 2183 AAYG/4016insT (4) 2 2 0 R1162X/R1162X (3) 1 2 0 DI507/2183 AAYG (4) 2 1 0 S466X/R1070Q; T (2) 2 1 0 Total 19 10 9 0 C. Trevisiol et al. / Journal of Cystic Fibrosis 4 (2005) 189-191190 0/0 CF patients (6.29 years) when compared to A/A patients (11.24; p =0.037). Login to comment