[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis
Tài liệu tham khảo
http://www.genet.sickkids.on.ca/cftr
http://www.who.int/genomics/publications/en
http://www.hgvs.org/mutnomen
Strom, 2002, Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples, Genet Med, 4, 319, 10.1097/00125817-200207000-00007
Kiesewetter, 1993, A mutation in CFTR produces different phenotypes depending on chromosomal background, Nat Genet, 5, 274, 10.1038/ng1193-274
Savov, 1995, Double mutant alleles: are they rare?, Hum Mol Genet, 4, 1169, 10.1093/hmg/4.7.1169
Fanen, 1999, Structure function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to CF, FEBS Lett, 452, 371, 10.1016/S0014-5793(99)00647-X
Romey, 2000, A naturally occurring sequence variation that creates a YYI element is associated with increased CF transmembrane conductance regulator expression, J Biol Chem, 275, 3561, 10.1074/jbc.275.5.3561
Claustres, 2000, Spectrum of CFTR mutations in CF and in congenital absence of the vas deferens in France, Hum Mutat, 16, 143, 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J
Farrell, 2008, Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report, J Pediatr, 153, S4, 10.1016/j.jpeds.2008.05.005
Mishra, 2008, Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals, J Pediatr, 153, 758, 10.1016/j.jpeds.2008.04.067
Desax, 2008, Nanoduct sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis, Eur J Pediatr, 167, 299, 10.1007/s00431-007-0485-0
Casals, 1995, Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected, Hum Genet, 95, 205, 10.1007/BF00209403
Claustres, 2004, Are p.1148T, p.R74W and p.D1270N CF causing mutations?, BMC Med Genet, 5, 19, 10.1186/1471-2350-5-19
Brugnon, 2004, Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.841R mutations and his spouse a heterozygous carrier of p.F508del mutation of CFTR gene, Fertil Steril, 90, e23
Krasnov, 2008, Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype–phenotype relationships, Hum Mutat, 29, 1364, 10.1002/humu.20866
Ratbi, 2008, Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco, J Cyst Fibros, 7, 440, 10.1016/j.jcf.2007.12.006