AAAAAA

   
Results: 1-15 |
Results: 15
THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: BECKER JA VLACH J RABEN N NAGARAJU K ADAMS EM HERMANS MM REUSER AJJ BROOKS SS TIFFT CJ HIRSCHHORN R HUIE ML NICOLINO M PLOTZ PH
Citation: Ja. Becker et al., THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, American journal of human genetics, 62(4), 1998, pp. 991-994
GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/
Authors: HUIE ML TSUJINO S BROOKS SS ENGEL A ELIAS E BONTHRON DT BESSLEY C SHANSKE S DIMAURO S GOTO YI HIRSCHHORN R
Citation: Ml. Huie et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/, Biochemical and biophysical research communications, 244(3), 1998, pp. 921-927
MISSENSE MUTATIONS IN A CONSERVED REGION OF THE ACID ALPHA-GLUCOSIDASE GENE - GENOTYPE-PHENOTYPE
Authors: HUIE ML TSUJINO S BEESLEY C BONTHRON D ENGEL A SHANSKE S DIMAURO S HIRSCHHORN R
Citation: Ml. Huie et al., MISSENSE MUTATIONS IN A CONSERVED REGION OF THE ACID ALPHA-GLUCOSIDASE GENE - GENOTYPE-PHENOTYPE, American journal of human genetics, 61(4), 1997, pp. 1466-1466
SPONTANEOUS IN-VIVO REVERSION TO NORMAL OF AN INHERITED MUTATION IN APATIENT WITH ADENOSINE-DEAMINASE DEFICIENCY
Authors: HIRSCHHORN R YANG DR PUCK JM HUIE ML JIANG CK KURLANDSKY LE
Citation: R. Hirschhorn et al., SPONTANEOUS IN-VIVO REVERSION TO NORMAL OF AN INHERITED MUTATION IN APATIENT WITH ADENOSINE-DEAMINASE DEFICIENCY, Journal of investigative medicine, 44(3), 1996, pp. 235-235
SPONTANEOUS IN-VIVO REVERSION TO NORMAL OF AN INHERITED MUTATION IN APATIENT WITH ADENOSINE-DEAMINASE DEFICIENCY
Authors: HIRSCHHORN R YANG DRX PUCK JM HUIE ML JIANG CK KURLANDSKY LE
Citation: R. Hirschhorn et al., SPONTANEOUS IN-VIVO REVERSION TO NORMAL OF AN INHERITED MUTATION IN APATIENT WITH ADENOSINE-DEAMINASE DEFICIENCY, Nature genetics, 13(3), 1996, pp. 290-295
LOCALIZATION AND ORDERING OF ACID ALPHA-GLUCOSIDASE (GAA) AND THYMIDINE KINASE (TK1) BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: KUO WL HIRSCHHORN R HUIE ML HIRSCHHORN K
Citation: Wl. Kuo et al., LOCALIZATION AND ORDERING OF ACID ALPHA-GLUCOSIDASE (GAA) AND THYMIDINE KINASE (TK1) BY FLUORESCENCE IN-SITU HYBRIDIZATION, Human genetics, 97(3), 1996, pp. 404-406
IDENTIFICATION OF AN E689K SUBSTITUTION AS THE MOLECULAR-BASIS OF THEHUMAN ACID ALPHA-GLUCOSIDASE TYPE-4 ALLOZYME (GAA-ASTERISK-4)
Authors: HUIE ML MENAKER M MCALPINE PJ HIRSCHHORN R
Citation: Ml. Huie et al., IDENTIFICATION OF AN E689K SUBSTITUTION AS THE MOLECULAR-BASIS OF THEHUMAN ACID ALPHA-GLUCOSIDASE TYPE-4 ALLOZYME (GAA-ASTERISK-4), Annals of Human Genetics, 60, 1996, pp. 365-368
MUTATION AT THE CATALYTIC SITE (M519V) IN GLYCOGEN-STORAGE-DISEASE TYPE-II (POMPE DISEASE)
Authors: HUIE ML HIRSCHHORN R CHEN AS MARTINIUK F ZHONG N
Citation: Ml. Huie et al., MUTATION AT THE CATALYTIC SITE (M519V) IN GLYCOGEN-STORAGE-DISEASE TYPE-II (POMPE DISEASE), Human mutation, 4(4), 1994, pp. 291-293
A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII)
Authors: HUIE ML CHEN AS BROOKS SS GRIX A HIRSCHHORN R
Citation: Ml. Huie et al., A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII), Human molecular genetics, 3(7), 1994, pp. 1081-1087
ABERRANT SPLICING IN ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII) - MOLECULAR-IDENTIFICATION OF AN IVS1 (-13T-]G) MUTATION IN A MAJORITY OF PATIENTS AND A NOVEL IVS10 (-]CT) MUTATION(1GT)
Authors: HUIE ML CHEN AS TSUJINO S SHANSKE S DIMAURO S ENGEL AG HIRSCHHORN R
Citation: Ml. Huie et al., ABERRANT SPLICING IN ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII) - MOLECULAR-IDENTIFICATION OF AN IVS1 (-13T-]G) MUTATION IN A MAJORITY OF PATIENTS AND A NOVEL IVS10 (-]CT) MUTATION(1GT), Human molecular genetics, 3(12), 1994, pp. 2231-2236
HOMOZYGOSITY FOR A MISSENSE MUTATION (G20R) ASSOCIATED WITH NEONATAL ONSET ADENOSINE DEAMINASE-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY (ADA-SCID)
Authors: YANG DRX HUIE ML HIRSCHHORN R
Citation: Drx. Yang et al., HOMOZYGOSITY FOR A MISSENSE MUTATION (G20R) ASSOCIATED WITH NEONATAL ONSET ADENOSINE DEAMINASE-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY (ADA-SCID), Clinical immunology and immunopathology, 70(2), 1994, pp. 171-175
SOMATIC MOSAICISM FOR A NEWLY IDENTIFIED SPLICE-SITE MUTATION IN A PATIENT WITH ADENOSINE DEAMINASE-DEFICIENT IMMUNODEFICIENCY AND SPONTANEOUS CLINICAL RECOVERY
Authors: HIRSCHHORN R YANG DRX ISRANI A HUIE ML OWNBY DR
Citation: R. Hirschhorn et al., SOMATIC MOSAICISM FOR A NEWLY IDENTIFIED SPLICE-SITE MUTATION IN A PATIENT WITH ADENOSINE DEAMINASE-DEFICIENT IMMUNODEFICIENCY AND SPONTANEOUS CLINICAL RECOVERY, American journal of human genetics, 55(1), 1994, pp. 59-68
2 NEW MUTATIONS AT THE ADENOSINE-DEAMINASE (ADA) LOCUS (Q254X AND DELNT1050-54) UNUSUAL FOR NOT BEING MISSENSE MUTATIONS
Authors: HIRSCHHORN R CHEN AS ISRANI A YANG DR HUIE ML
Citation: R. Hirschhorn et al., 2 NEW MUTATIONS AT THE ADENOSINE-DEAMINASE (ADA) LOCUS (Q254X AND DELNT1050-54) UNUSUAL FOR NOT BEING MISSENSE MUTATIONS, Human mutation, 2(4), 1993, pp. 320-323
DE-NOVO MUTATION (13-NT DELETION) RESULTING IN INFANTILE GSDII (POMPE) IN A CHILD CARRYING A MISSENSE MUTATION ON THE OTHER ALLELE
Authors: HUIE ML CHEN AS GRIX AW HIRSCHHORN R
Citation: Ml. Huie et al., DE-NOVO MUTATION (13-NT DELETION) RESULTING IN INFANTILE GSDII (POMPE) IN A CHILD CARRYING A MISSENSE MUTATION ON THE OTHER ALLELE, American journal of human genetics, 53(3), 1993, pp. 906-906
HOMOZYGOSITY FOR A MISSENSE MUTATION (G20R) IN A CONSERVED AREA OF ADENOSINE-DEAMINASE (ADA) ASSOCIATED WITH NEONATAL ONSET ADA DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY (ADA SCID)
Authors: YANG DR HUIE ML HIRSCHHORN R
Citation: Dr. Yang et al., HOMOZYGOSITY FOR A MISSENSE MUTATION (G20R) IN A CONSERVED AREA OF ADENOSINE-DEAMINASE (ADA) ASSOCIATED WITH NEONATAL ONSET ADA DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY (ADA SCID), American journal of human genetics, 53(3), 1993, pp. 1256-1256
Risultati: 1-15 |