-
1
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
Cystic Fibrosis Genetic Analysis Consortium. 1994. Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177.
-
(1994)
Hum Mutat
, vol.4
, pp. 167-177
-
-
-
2
-
-
15844414679
-
Population specific screening by mutation analysis for diseases frequent in Ashkenazi Jews
-
DeMarchi JM, Caskey CT, Richards CS. 1996. Population specific screening by mutation analysis for diseases frequent in Ashkenazi Jews. Hum Mutat 8:116-125.
-
(1996)
Hum Mutat
, vol.8
, pp. 116-125
-
-
DeMarchi, J.M.1
Caskey, C.T.2
Richards, C.S.3
-
3
-
-
0029185421
-
Relatively high prevalance of the CFTR mutations, G85E and 1154ins TC
-
Friedman KJ, Blalock ML, Heim RA, Silverman LM. 1995. Relatively high prevalance of the CFTR mutations, G85E and 1154ins TC. Hum Mutat 6:95-96.
-
(1995)
Hum Mutat
, vol.6
, pp. 95-96
-
-
Friedman, K.J.1
Blalock, M.L.2
Heim, R.A.3
Silverman, L.M.4
-
4
-
-
0028175683
-
Genetic analysis of Hispanic individuals with cystic fibrosis
-
Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, Hernried L, Murphy S, Harwood IR, Accurso FJ, Jain KD. 1994. Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet 54:443-446.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 443-446
-
-
Grebe, T.A.1
Seltzer, W.K.2
DeMarchi, J.3
Silva, D.K.4
Doane, W.W.5
Gozal, D.6
Richter, S.F.7
Bowman, C.M.8
Norman, R.A.9
Rhodes, S.N.10
Hernried, L.11
Murphy, S.12
Harwood, I.R.13
Accurso, F.J.14
Jain, K.D.15
-
5
-
-
0035746484
-
Improved detection of cystic fibrosis mutations in the heterozygous US population using an expanded, pan-ethnic mutation panel
-
Heim RA, Sugarman EA, Allitto BA. 2001. Improved detection of cystic fibrosis mutations in the heterozygous US population using an expanded, pan-ethnic mutation panel. Genet Med 3:168-176.
-
(2001)
Genet Med
, vol.3
, pp. 168-176
-
-
Heim, R.A.1
Sugarman, E.A.2
Allitto, B.A.3
-
6
-
-
0025971116
-
Two frameshift mutations in the cystic fibrosis gene
-
Iannuzzi MC, Stern RC, Collins FS, Hon CT, Hidaka N, Strong T, Becker L, Drumm ML, White MB, Gerrard B, Dean M. 1991. Two frameshift mutations in the cystic fibrosis gene. Am J Hum Genet 48:227-231.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 227-231
-
-
Iannuzzi, M.C.1
Stern, R.C.2
Collins, F.S.3
Hon, C.T.4
Hidaka, N.5
Strong, T.6
Becker, L.7
Drumm, M.L.8
White, M.B.9
Gerrard, B.10
Dean, M.11
-
7
-
-
16944363988
-
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene
-
Macek M, Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, Cutting GR. 1997. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 9:136-147.
-
(1997)
Hum Mutat
, vol.9
, pp. 136-147
-
-
Macek, M.1
Mercier, B.2
Mackova, A.3
Miller, P.W.4
Hamosh, A.5
Ferec, C.6
Cutting, G.R.7
-
8
-
-
0033744189
-
A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family
-
Wong LJC, Wang J, Woo M, Hsu E, Bowman CM. 2000. A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family. Prenat Diagn 20:807-810.
-
(2000)
Prenat Diagn
, vol.20
, pp. 807-810
-
-
Wong, L.J.C.1
Wang, J.2
Woo, M.3
Hsu, E.4
Bowman, C.M.5
-
9
-
-
0034816370
-
Improved detection of CFTR mutations in Southern California Hispanic CF patients
-
Wong LJC, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS. 2001a. Improved detection of CFTR mutations in Southern California Hispanic CF patients. Hum Mutat 18:296-307.
-
(2001)
Hum Mutat
, vol.18
, pp. 296-307
-
-
Wong, L.J.C.1
Wang, J.2
Zhang, Y.H.3
Hsu, E.4
Heim, R.A.5
Bowman, C.M.6
Woo, M.S.7
-
10
-
-
0035451273
-
Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF
-
Wong LJC, Wang J, Bowman CM. 2001b. Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF. Am J Med Genet 102:389-390.
-
(2001)
Am J Med Genet
, vol.102
, pp. 389-390
-
-
Wong, L.J.C.1
Wang, J.2
Bowman, C.M.3
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