ABCMdb

PMID: 9160331

Rossetti S, Englisch S, Bresin E, Pignatti PF, Turco AE
Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA).
Mol Cell Probes. 1997 Apr;11(2):155-60., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Mutations analysed by CFLPA-SSa Gene Mutation Sequence PCR CFLP temperature (°C) (reference) modification size (bp) 40 55 65 70 COL4A5 GI77R G→C 121 y n n y (7) COL4A5 1272delC DeltaC 181 y y nd n (9) COL4A5 G174R G→C 121 y n n y (7) COL4A5 G54D G→A 230 y n nd y (10) PKD1 11549dupl10 duplication 535 n n y y (12) PKD1 Q4041X C→T 418 y n n n (11) PKD1 Y4126X C→G 379 y n nd n (12) PKD1 M3677T T→C 268 y nd nd n (12) PKD1 12838C/T C→T 552 y nd nd n (14) PKD1 R4020X C→T 418 y nd nd n (13) FGFR3 R380G G→A 164 y nd nd n (15) CFTR R334W C→T 230 y nd nd n (17) CFTR R347P G→C 230 y nd nd n (18) a y=appearance of a mutation-specific DNA fragment after Cleavase I digestion. Login to comment 41 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Mutations analysed by CFLPA-SSa Gene Mutation Sequence PCR CFLP temperature (&#b0;C) (reference) modification size (bp) 40 55 65 70 COL4A5 GI77R G࢐C 121 y n n y (7) COL4A5 1272delC DeltaC 181 y y nd n (9) COL4A5 G174R G࢐C 121 y n n y (7) COL4A5 G54D G࢐A 230 y n nd y (10) PKD1 11549dupl10 duplication 535 n n y y (12) PKD1 Q4041X C࢐T 418 y n n n (11) PKD1 Y4126X C࢐G 379 y n nd n (12) PKD1 M3677T T࢐C 268 y nd nd n (12) PKD1 12838C/T C࢐T 552 y nd nd n (14) PKD1 R4020X C࢐T 418 y nd nd n (13) FGFR3 R380G G࢐A 164 y nd nd n (15) CFTR R334W C࢐T 230 y nd nd n (17) CFTR R347P G࢐C 230 y nd nd n (18) a y=appearance of a mutation-specific DNA fragment after Cleavase I digestion. Login to comment 55 ABCC7 p.Arg347Pro The CFTR mutation R347P, and age, irrespective of the PCR-fragment size. Login to comment 58 ABCC7 p.Arg347Pro The CFTR mutation R347P, and age, irrespective of the PCR-fragment size. Login to comment 64 ABCC7 p.Arg347Pro a: CFTR, R347P; b: COL4A5, G54D; c: PKD1, Q4041X; d: PKD1, 11549dup10; e: COL4A5, G174R. Login to comment 67 ABCC7 p.Arg347Pro a: CFTR, R347P; b: COL4A5, G54D; c: PKD1, Q4041X; d: PKD1, 11549dup10; e: COL4A5, G174R. Login to comment 130 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro American Journal of Medicalgene mutations R334W and R347P and Dr Maria Giovanna Genetics 65, 155-9.Benetazzo for helpful discussions about silver staining. Login to comment 135 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro American Journal of Medical gene mutations R334W and R347P and Dr Maria Giovanna Genetics 65, 155-9. Login to comment