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Results: 1-11 |
Results: 11
W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS
Authors: PETROULAKIS E CAO ZM CLARKE JTR MAHURAN DJ LEE G TRIGGSRAINE B
Citation: E. Petroulakis et al., W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS, Human mutation, 11(6), 1998, pp. 432-442
ASSIGNMENT OF GROWTH-FACTOR RECEPTOR-BOUND PROTEIN-10 (GRB10) TO HUMAN-CHROMOSOME 7P11.2-P12
Authors: JEROME CA SCHERER SW TSUI LC GIETZ RD TRIGGSRAINE B
Citation: Ca. Jerome et al., ASSIGNMENT OF GROWTH-FACTOR RECEPTOR-BOUND PROTEIN-10 (GRB10) TO HUMAN-CHROMOSOME 7P11.2-P12, Genomics, 40(1), 1997, pp. 215-216
IDENTIFICATION OF PROTEINS THAT INTERACT WITH A PROTEIN OF INTEREST -APPLICATIONS OF THE YEAST 2-HYBRID SYSTEM
Authors: GIETZ RD TRIGGSRAINE B ROBBINS A GRAHAM KC WOODS RA
Citation: Rd. Gietz et al., IDENTIFICATION OF PROTEINS THAT INTERACT WITH A PROTEIN OF INTEREST -APPLICATIONS OF THE YEAST 2-HYBRID SYSTEM, Molecular and cellular biochemistry, 172(1-2), 1997, pp. 67-79
LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES DOES NOT MAP TOANY OF THE KNOWN LGMD LOCI
Authors: WEILER T GREENBERG CR NYLEN E MORGAN K FUJIWARA TM CRUMLEY MJ ZELINSKY T HALLIDAY W NICKEL B TRIGGSRAINE B WROGEMANN K
Citation: T. Weiler et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES DOES NOT MAP TOANY OF THE KNOWN LGMD LOCI, American journal of medical genetics, 72(3), 1997, pp. 363-368
BENIGN HEXA MUTATIONS, C739T(R247W) AND C745T(R249W), CAUSE BETA-HEXOSAMINIDASE A PSEUDODEFICIENCY BY REDUCING THE ALPHA-SUBUNIT PROTEIN-LEVELS
Authors: CAO ZM PETROULAKIS E SALO T TRIGGSRAINE B
Citation: Zm. Cao et al., BENIGN HEXA MUTATIONS, C739T(R247W) AND C745T(R249W), CAUSE BETA-HEXOSAMINIDASE A PSEUDODEFICIENCY BY REDUCING THE ALPHA-SUBUNIT PROTEIN-LEVELS, The Journal of biological chemistry, 272(23), 1997, pp. 14975-14982
AN ALU1(-) POLYMORPHISM IN THE HEXA GENE IS COMMON IN ASHKENAZI AND SEPHARDIC JEWS, ISRAELI ARABS, AND FRENCH-CANADIANS OF QUEBEC AND NORTHERN NEW-ENGLAND
Authors: GRINSHPUN J KHOSRAVI R PELEG L GOLDMAN B KAPLAN F TRIGGSRAINE B NAVON R
Citation: J. Grinshpun et al., AN ALU1(-) POLYMORPHISM IN THE HEXA GENE IS COMMON IN ASHKENAZI AND SEPHARDIC JEWS, ISRAELI ARABS, AND FRENCH-CANADIANS OF QUEBEC AND NORTHERN NEW-ENGLAND, Human mutation, 6(1), 1995, pp. 89-90
A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5)
Authors: GREENBERG CR REIMER D SINGAL R TRIGGSRAINE B CHUDLEY AE DILLING LA PHILIPPS S HAWORTH JC SEARGEANT LE GOODMAN SI
Citation: Cr. Greenberg et al., A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5), Human molecular genetics, 4(3), 1995, pp. 493-495
PCR-BASED ANALYSIS OF VOLTAGE-GATED K-MUSCLE( CHANNELS IN VASCULAR SMOOTH)
Authors: ZAHRADKA P HARRIS KD TRIGGSRAINE B LAMONTAGNE G LEBLANC N
Citation: P. Zahradka et al., PCR-BASED ANALYSIS OF VOLTAGE-GATED K-MUSCLE( CHANNELS IN VASCULAR SMOOTH), Molecular and cellular biochemistry, 145(1), 1995, pp. 39-44
MUTATIONAL ANALYSES OF TAY-SACHS-DISEASE - STUDIES ON TAY-SACHS CARRIERS OF FRENCH-CANADIAN BACKGROUND LIVING IN NEW-ENGLAND
Authors: TRIGGSRAINE B RICHARD M WASEL N PRENCE EM NATOWICZ MR
Citation: B. Triggsraine et al., MUTATIONAL ANALYSES OF TAY-SACHS-DISEASE - STUDIES ON TAY-SACHS CARRIERS OF FRENCH-CANADIAN BACKGROUND LIVING IN NEW-ENGLAND, American journal of human genetics, 56(4), 1995, pp. 870-879
TAY-SACHS-DISEASE RISK IN FRANCO-AMERICANS
Authors: WASEL N CAO ZM RICHARD M NATOWICZ M TRIGGSRAINE B
Citation: N. Wasel et al., TAY-SACHS-DISEASE RISK IN FRANCO-AMERICANS, Clinical research, 42(3), 1994, pp. 10000439-10000439
A HOMOALLELIC GLY(317)-]ASP MUTATION IN ALPL CAUSES THE PERINATAL (LETHAL) FORM OF HYPOPHOSPHATASIA IN CANADIAN MENNONITES
Authors: GREENBERG CR TAYLOR CLD HAWORTH JC SEARGEANT LE PHILIPPS S TRIGGSRAINE B CHODIRKER BN
Citation: Cr. Greenberg et al., A HOMOALLELIC GLY(317)-]ASP MUTATION IN ALPL CAUSES THE PERINATAL (LETHAL) FORM OF HYPOPHOSPHATASIA IN CANADIAN MENNONITES, Genomics, 17(1), 1993, pp. 215-217
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