Authors:
VANBAEL M
NATOWICZ MR
TOMCZAK J
GREBNER EE
PRENCE EM
Citation: M. Vanbael et al., HETEROZYGOSITY FOR TAY-SACHS-DISEASE IN NON-JEWISH AMERICANS WITH ANCESTRY FROM IRELAND OR GREAT-BRITAIN, Journal of Medical Genetics, 33(10), 1996, pp. 829-832
Authors:
DEGASPERI R
SOSA MAG
GREBNER EE
MANSFIELD D
BATTISTINI S
SARTORATO EL
RAGHAVAN SS
DAVIS JG
KOLODNY EH
Citation: R. Degasperi et al., SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY, Biochemical and molecular medicine, 56(1), 1995, pp. 31-36
Authors:
SOSA MAG
DEGASPERI R
GREBNER EE
MANSFIELD D
BATTISTINI S
SARTORATO EL
RAGHAVAN SS
DAVIS JG
KOLODNY EH
Citation: Mag. Sosa et al., SUBSTITUTION OF ALANINE(531) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY, American journal of human genetics, 57(4), 1995, pp. 1386-1386
Citation: J. Tomczak et Ee. Grebner, 3 NOVEL BETA-HEXOSAMINIDASE-A MUTATIONS IN OBLIGATE CARRIERS OF TAY-SACHS-DISEASE, Human mutation, 4(1), 1994, pp. 71-72
Citation: J. Tomczak et Ee. Grebner, 2 NEW BETA-HEXOSAMINIDASE A MUTATIONS IN OBLIGATE CARRIERS OF TAY-SACHS-DISEASE, American journal of human genetics, 53(3), 1993, pp. 957-957
Citation: J. Tomczak et al., DISTRIBUTION OF A PSEUDODEFICIENCY ALLELE AMONG TAY-SACHS CARRIERS, American journal of human genetics, 53(2), 1993, pp. 537-539