Author:
Gathof B.S.,Sommer M.,Podskarbi T.,Reichardt J.,Braun A.,Gresser U.,Shin Y.S.
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference15 articles.
1. Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J (1944) A common mutation associated with the Duarte galactosemia allele. Am J Hum Genet 54:1030?1036
2. Kaufman FR, Reichardt JKV, Ng WG, Manis FR, McBride-Chang C, Wolff JA (1994) Correlation of cognitive, neurologic and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr 125:225?227
3. Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ (1992) The human galactose-1-phosphate uridyltransferase gene. Genomics 14:474?480
4. Ng WG, Xu YK, Kaufman FR, Donnell GN, Wolff J, Allen RJ, Koritala S, Reichardt JKV (1994) Biochemical and molecular studies of 132 patients with galactosemia. Hum Genet 94:359?363
5. Podskarbi T, Reichardt J, Shin YS (1994a) Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany. J Inherit Metab Dis 17:149?150
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