Variant cystic fibrosis phenotypes in the absence of CFTR mutations

Comment

. 2002 Dec 5;347(23):1892-3; author reply 1892-3.

doi: 10.1056/NEJM200212053472318.

Comment

Richard T L Couper. N Engl J Med. 2002.

. 2002 Dec 5;347(23):1892-3; author reply 1892-3.

doi: 10.1056/NEJM200212053472318.

No abstract available

Comment on

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Groman JD, et al. N Engl J Med. 2002 Aug 8;347(6):401-7. doi: 10.1056/NEJMoa011899. N Engl J Med. 2002. PMID: 12167682
What is cystic fibrosis?
Knowles MR, Durie PR. Knowles MR, et al. N Engl J Med. 2002 Aug 8;347(6):439-42. doi: 10.1056/NEJMe020070. N Engl J Med. 2002. PMID: 12167688 No abstract available.

[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
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Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Groman JD, et al. N Engl J Med. 2002 Aug 8;347(6):401-7. doi: 10.1056/NEJMoa011899. N Engl J Med. 2002. PMID: 12167682
Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
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[Modifier genes and cystic fibrosis].
Corvol H, Flamant C, Vallet C, Clement A, Brouard J. Corvol H, et al. Arch Pediatr. 2006 Jan;13(1):57-63. doi: 10.1016/j.arcped.2005.09.029. Epub 2005 Nov 7. Arch Pediatr. 2006. PMID: 16274977 Review. French.