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Results: 1-8 |
Results: 8
HERMANSKY-PUDLAK-SYNDROME - MODELS FOR INTRACELLULAR VESICLE FORMATION
Authors: SHOTELERSUK V GAHL WA
Citation: V. Shotelersuk et Wa. Gahl, HERMANSKY-PUDLAK-SYNDROME - MODELS FOR INTRACELLULAR VESICLE FORMATION, Molecular genetics and metabolism ( Molecular genetics and metabolism (Print)), 65(2), 1998, pp. 85-96
3 NEW MUTATIONS IN A GENE CAUSING HERMANSKY-PUDLAK-SYNDROME - CLINICAL CORRELATIONS
Authors: SHOTELERSUK V HAZELWOOD S LARSON D IWATA F KAISERKUPFER MI KUEHL E BERNARDINI I GAHL WA
Citation: V. Shotelersuk et al., 3 NEW MUTATIONS IN A GENE CAUSING HERMANSKY-PUDLAK-SYNDROME - CLINICAL CORRELATIONS, MOLECULAR GENETICS AND METABOLISM, 64(2), 1998, pp. 99-107
MUTATIONS IN THE BETA-3A SUBUNIT OF THE AP-3 ADAPTER COMPLEX IN PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME (HPS)
Authors: DELLANGELICA EC SHOTELERSUK V GAHL WA BONIFACINO JS
Citation: Ec. Dellangelica et al., MUTATIONS IN THE BETA-3A SUBUNIT OF THE AP-3 ADAPTER COMPLEX IN PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME (HPS), Molecular biology of the cell, 9, 1998, pp. 1233-1233
NORMAL BRAIN MYELINATION IN A PATIENT HOMOZYGOUS FOR A MUTATION THAT ENCODES A SEVERELY TRUNCATED METHIONINE ADENOSYLTRANSFERASE I III/
Authors: HAZELWOOD S BERNARDINI I SHOTELERSUK V TANGERMAN A GUO JR MUDD H GAHL WA
Citation: S. Hazelwood et al., NORMAL BRAIN MYELINATION IN A PATIENT HOMOZYGOUS FOR A MUTATION THAT ENCODES A SEVERELY TRUNCATED METHIONINE ADENOSYLTRANSFERASE I III/, American journal of medical genetics, 75(4), 1998, pp. 395-400
GENETIC-DEFECTS AND CLINICAL CHARACTERISTICS OF PATIENTS WITH A FORM OF OCULOCUTANEOUS ALBINISM (HERMANSKY-PUDLAK SYNDROME)
Authors: GAHL WA BRANTLY M KAISERKUPFER MI IWATA F HAZELWOOD S SHOTELERSUK V DUFFY LF KUEHL EM TROENDLE J BERNARDINI I
Citation: Wa. Gahl et al., GENETIC-DEFECTS AND CLINICAL CHARACTERISTICS OF PATIENTS WITH A FORM OF OCULOCUTANEOUS ALBINISM (HERMANSKY-PUDLAK SYNDROME), The New England journal of medicine, 338(18), 1998, pp. 1258-1264
CTNS MUTATIONS IN AN AMERICAN-BASED POPULATION OF CYSTINOSIS PATIENTS
Authors: SHOTELERSUK V LARSON D ANIKSTER Y MCDOWELL G LEMONS R BERNARDINI I GUO JR THOENE J GAHL WA
Citation: V. Shotelersuk et al., CTNS MUTATIONS IN AN AMERICAN-BASED POPULATION OF CYSTINOSIS PATIENTS, American journal of human genetics, 63(5), 1998, pp. 1352-1362
EVIDENCE FOR LOCUS HETEROGENEITY IN PUERTO-RICANS WITH HERMANSKY-PUDLAK-SYNDROME
Authors: HAZELWOOD S SHOTELERSUK V WILDENBERG SC CHEN D IWATA F KAISERKUPFER MI WHITE JG KING RA GAHL WA
Citation: S. Hazelwood et al., EVIDENCE FOR LOCUS HETEROGENEITY IN PUERTO-RICANS WITH HERMANSKY-PUDLAK-SYNDROME, American journal of human genetics, 61(5), 1997, pp. 1088-1094
EVIDENCE FOR DYSREGULATION OF CHOLESTEROL AND TRIGLYCERIDE SYNTHESIS IN AN INFANT WITH FATTY LIVER
Authors: HAZELWOOD S SHOTELERSUK V GUO J HOGANSON G WHITINGTON PF GAHL WA
Citation: S. Hazelwood et al., EVIDENCE FOR DYSREGULATION OF CHOLESTEROL AND TRIGLYCERIDE SYNTHESIS IN AN INFANT WITH FATTY LIVER, American journal of human genetics, 61(4), 1997, pp. 1463-1463
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