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Items: 1 to 20 of 171

2.

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K.

Am J Hum Genet. 1993 Mar;52(3):609-15.

4.

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC.

Genomics. 1991 May;10(1):229-35.

PMID:
1710599
5.

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC.

Genomics. 1991 May;10(1):214-28.

PMID:
1710598
6.

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC.

Hum Mutat. 1995;5(1):43-7.

PMID:
7537150
7.

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M.

Genomics. 1994 May 15;21(2):434-6.

PMID:
7522211
8.

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS.

Hum Mutat. 1992;1(5):380-7.

9.
10.

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Dörk T, Wulbrand U, Richter T, Neumann T, Wolfes H, Wulf B, Maass G, Tümmler B.

Hum Genet. 1991 Aug;87(4):441-6.

PMID:
1715308
11.

Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium.

[No authors listed]

Hum Mutat. 1994;4(3):167-77. No abstract available.

PMID:
7530552
12.
13.

The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.

Nemeti M, Johnson JP, Papp Z, Louie E.

Hum Genet. 1992 May;89(2):245-6.

PMID:
1375186
14.

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Dörk T, Neumann T, Wulbrand U, Wulf B, Kälin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G, et al.

Hum Genet. 1992 Feb;88(4):417-25.

PMID:
1371263
15.

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.

Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J.

Hum Mol Genet. 1993 Aug;2(8):1209-13.

PMID:
7691344
16.
17.

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H.

J Cyst Fibros. 2008 Mar;7(2):102-9. Epub 2007 Jul 27.

19.

Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.

Alibakhshi R, Zamani M.

Iran J Allergy Asthma Immunol. 2006 Mar;5(1):3-8.

20.

A sequence variation in intron 17B of the cystic fibrosis transmembrane conductance regulator gene.

Parad RB, Gerard C.

Hum Mutat. 1992;1(3):258-9. No abstract available.

PMID:
1284536

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