on Applications in Genetics
3. McReynolds JW, Crowley B, Mahoney MJ, Rosenberg LE (1981) Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet
33:345-353
4. Miyazaki T, Kajita M, Ohmori S, Mizutani N, Niwa T, Murata Y, et al. (1998) A novel mutation
(E358K) in the ?-galactosidase A gene detected in a Japanese family with Fabry disease.
Human Mutat [Suppll1:S139-S140
5. Aoshima T, Sekido Y, Miyazaki T, Kajita M, Mimura S, Watanabe K, Shimokata K, Niwa T.
Rapid detection of deletion mutations of inherited metabolic diseases by melting curve
analysis with LightCyder. Clin Chem 2000 Jan;46( 1): 119-22.
6. Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L (1996) Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and
detection of carriers in Fabry disease. Hum Genet 98:719-726
7. Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I (1993) Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9basepair deletion due to aberrant splicing. J Clin Invest 91:1884-1887
8. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium
thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
3. McReynolds JW, Crowley B, Mahoney MJ, Rosenberg LE (1981) Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet
33:345-353
4. Miyazaki T, Kajita M, Ohmori S, Mizutani N, Niwa T, Murata Y, et al. (1998) A novel mutation
(E358K) in the ?-galactosidase A gene detected in a Japanese family with Fabry disease.
Human Mutat [Suppll1:S139-S140
5. Aoshima T, Sekido Y, Miyazaki T, Kajita M, Mimura S, Watanabe K, Shimokata K, Niwa T.
Rapid detection of deletion mutations of inherited metabolic diseases by melting curve
analysis with LightCyder. Clin Chem 2000 Jan;46( 1): 119-22.
6. Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L (1996) Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and
detection of carriers in Fabry disease. Hum Genet 98:719-726
7. Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I (1993) Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9basepair deletion due to aberrant splicing. J Clin Invest 91:1884-1887
8. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium
thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159