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Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
Mercier B,
Lissens W,
Novelli G,
Kalaydjieva L,
De Arce M,
Kapranov N,
Klain NC,
Lenoir G,
Chauveau P,
Lenaerts C, et al.
Centre de Biogénétique, CDTS, Brest, France.
PMID: 7683628 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.
Mickle JE, Milewski MI, Macek M Jr, Cutting GR.
Am J Hum Genet. 2000 May; 66(5):1485-95. Epub 2000 Apr 4.
[Am J Hum Genet. 2000]
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Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrézet MP, Férec C.
Am J Hum Genet. 1995 Jan; 56(1):272-7.
[Am J Hum Genet. 1995]
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A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
Mercier B, Lissens W, Novelli G, Kalaydjieva L, de Arce M, Kapranov N, Canki Klain N, Estivill X, Palacio A, Cashman S.
J Med Genet. 1994 Sep; 31(9):731-4.
[J Med Genet. 1994]
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