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Results: 1-9 |
Results: 9
A NOVEL COMPLEX ALLELE AND 2 NEW POINT MUTATIONS IN TYPE-2 (ACUTE NEURONOPATHIC) GAUCHER-DISEASE
Authors: SINCLAIR G CHOY FYM HUMPHRIES L
Citation: G. Sinclair et al., A NOVEL COMPLEX ALLELE AND 2 NEW POINT MUTATIONS IN TYPE-2 (ACUTE NEURONOPATHIC) GAUCHER-DISEASE, Blood cells, molecules, & diseases (Print), 24(20), 1998, pp. 420-427
GAUCHER TYPE-2 DISEASE - IDENTIFICATION OF A NOVEL TRANSVERSION MUTATION IN A FRENCH-IRISH PATIENT
Authors: CHOY FYM HUMPHRIES ML BENYOSEPH Y
Citation: Fym. Choy et al., GAUCHER TYPE-2 DISEASE - IDENTIFICATION OF A NOVEL TRANSVERSION MUTATION IN A FRENCH-IRISH PATIENT, American journal of medical genetics, 78(1), 1998, pp. 92-93
IDENTIFICATION OF 2 NOVEL AND 4 UNCOMMON MISSENSE MUTATIONS AMONG CHINESE GAUCHER-DISEASE PATIENTS
Authors: CHOY FYM HUMPHRIES ML SHI HP
Citation: Fym. Choy et al., IDENTIFICATION OF 2 NOVEL AND 4 UNCOMMON MISSENSE MUTATIONS AMONG CHINESE GAUCHER-DISEASE PATIENTS, American journal of medical genetics, 71(2), 1997, pp. 172-178
NOVEL INSERTION MUTATION IN A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER-DISEASE PATIENT
Authors: CHOY FYM HUMPHRIES ML FERREIRA P
Citation: Fym. Choy et al., NOVEL INSERTION MUTATION IN A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER-DISEASE PATIENT, American journal of medical genetics, 68(2), 1997, pp. 211-215
GAUCHER-DISEASE - MOLECULAR SCREENING OF THE GLUCOCEREBROSIDASE 1601GAND 1601A ALLELES IN VICTORIA, BRITISH-COLUMBIA, CANADA
Authors: CHOY FYM LINSEY J MACLEOD PD
Citation: Fym. Choy et al., GAUCHER-DISEASE - MOLECULAR SCREENING OF THE GLUCOCEREBROSIDASE 1601GAND 1601A ALLELES IN VICTORIA, BRITISH-COLUMBIA, CANADA, Journal of Medical Genetics, 34(1), 1997, pp. 83-85
IDENTIFICATION OF A NEW MUTATION (P178S) IN AN AFRICAN-AMERICAN PATIENT WITH TYPE-2 GAUCHER DISEASE
Authors: CHOY FYM WEI C
Citation: Fym. Choy et C. Wei, IDENTIFICATION OF A NEW MUTATION (P178S) IN AN AFRICAN-AMERICAN PATIENT WITH TYPE-2 GAUCHER DISEASE, Human mutation, 5(4), 1995, pp. 345-347
TYPE-2 GAUCHER DISEASE WITHOUT THE COMPLEX ALLELES
Authors: CHOY FYM
Citation: Fym. Choy, TYPE-2 GAUCHER DISEASE WITHOUT THE COMPLEX ALLELES, Journal of clinical laboratory analysis, 9(5), 1995, pp. 340-341
A NEW MISSENSE MUTATION IN GLUCOCEREBROSIDASE EXON-9 OF A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER DISEASE PATIENT
Authors: CHOY FYM WEI C APPLEGARTH DA YONG SL
Citation: Fym. Choy et al., A NEW MISSENSE MUTATION IN GLUCOCEREBROSIDASE EXON-9 OF A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER DISEASE PATIENT, Human molecular genetics, 3(5), 1994, pp. 821-823
DNA ANALYSIS OF AN UNCOMMON MISSENSE MUTATION IN A GAUCHER DISEASE PATIENT OF JEWISH-POLISH-RUSSIAN DESCENT
Authors: CHOY FYM WEI C APPLEGARTH DA MCGILLIVRAY BC
Citation: Fym. Choy et al., DNA ANALYSIS OF AN UNCOMMON MISSENSE MUTATION IN A GAUCHER DISEASE PATIENT OF JEWISH-POLISH-RUSSIAN DESCENT, American journal of medical genetics, 51(2), 1994, pp. 156-160
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