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Results: 1-8 |
Results: 8
SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS
Authors: BONAVENTURE J COHENSOLAL L RITVANIEMI P VANMALDERGEM L KADHOM N DELEZOIDE AL MAROTEAUX P PROCKOP DJ ALAKOKKO L
Citation: J. Bonaventure et al., SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS, Biochemical journal, 307, 1995, pp. 823-830
IDENTIFICATION OF COL2A1 GENE-MUTATIONS IN PATIENTS WITH CHONDRODYSPLASIAS AND FAMILIAL OSTEOARTHRITIS
Authors: RITVANIEMI P KORKKO J BONAVENTURE J VIKKULA M HYLAND J PAASSILTA P KAITILA I KAARIAINEN H SOKOLOV BP HAKALA M MANNISMAKI P MEERSON EM KLEMOLA T WILLIAMS C PELTONEN L KIVIRIKKO KI PROCKOP DJ ALAKOKKO L
Citation: P. Ritvaniemi et al., IDENTIFICATION OF COL2A1 GENE-MUTATIONS IN PATIENTS WITH CHONDRODYSPLASIAS AND FAMILIAL OSTEOARTHRITIS, Arthritis and rheumatism, 38(7), 1995, pp. 999-1004
A SINGLE-BASE MUTATION IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) THAT CONVERTS GLYCINE ALPHA-1-247 TO SERINE IN A FAMILY WITH LATE-ONSET SPONDYLOEPIPHYSEAL DYSPLASIA
Authors: RITVANIEMI P SOKOLOV BP WILLIAMS CJ CONSIDINE E YURGENEV L MEERSON EM ALAKOKKO L PROCKOP DJ
Citation: P. Ritvaniemi et al., A SINGLE-BASE MUTATION IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) THAT CONVERTS GLYCINE ALPHA-1-247 TO SERINE IN A FAMILY WITH LATE-ONSET SPONDYLOEPIPHYSEAL DYSPLASIA, Human mutation, 3(3), 1994, pp. 261-267
MUTATION IN THE COL2A1 GENE IN A PATIENT WITH HYPOCHONDROGENESIS - EXPRESSION OF MUTATED COL2A1 GENE IS ACCOMPANIED BY EXPRESSION OF GENES FOR TYPE-I PROCOLLAGEN IN CHONDROCYTES
Authors: FREISINGER P ALAKOKKO L LEGUELLEC D FRANC S BOUVIER R RITVANIEMI P PROCKOP DJ BONAVENTURE J
Citation: P. Freisinger et al., MUTATION IN THE COL2A1 GENE IN A PATIENT WITH HYPOCHONDROGENESIS - EXPRESSION OF MUTATED COL2A1 GENE IS ACCOMPANIED BY EXPRESSION OF GENES FOR TYPE-I PROCOLLAGEN IN CHONDROCYTES, The Journal of biological chemistry, 269(18), 1994, pp. 13663-13669
A 4TH EXAMPLE SUGGESTS THAT PREMATURE TERMINATION CODONS IN THE COL2A1 GENE ARE A COMMON-CAUSE OF THE STICKLER SYNDROME - ANALYSIS OF THE COL2A1 GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS
Authors: RITVANIEMI P HYLAND J IGNATIUS J KIVIRIKKO KI PROCKOP DJ ALAKOKKO L
Citation: P. Ritvaniemi et al., A 4TH EXAMPLE SUGGESTS THAT PREMATURE TERMINATION CODONS IN THE COL2A1 GENE ARE A COMMON-CAUSE OF THE STICKLER SYNDROME - ANALYSIS OF THE COL2A1 GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS, Genomics, 17(1), 1993, pp. 218-221
A 4TH EXAMPLE SUGGESTS PREMATURE TERMINATION CONDONS IN THE COL2A1 GENE ARE A COMMON-CAUSE OF THE STICKLER SYNDROME - ANALYSIS OF THE COL2A1 GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS
Authors: RITVANIEMI P HYLAND J IGNATIUS J KIVIRIKKO KI PROCKOP DJ ALAKOKKO L
Citation: P. Ritvaniemi et al., A 4TH EXAMPLE SUGGESTS PREMATURE TERMINATION CONDONS IN THE COL2A1 GENE ARE A COMMON-CAUSE OF THE STICKLER SYNDROME - ANALYSIS OF THE COL2A1 GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS, American journal of human genetics, 53(3), 1993, pp. 1115-1115
G-MUTATION TO A-MUTATION IN THE TYPE-II PROCOLLAGEN GENE THAT CONVERTS GLYCINE-247 TO SERINE IN A FAMILY WITH SPONDYLOEPIPHYSEAL DYSPLASIA
Authors: SOKOLOV BP RITVANIEMI P WILLIAMS CJ CONSIDINE E YURGENEV L MEERSON EM ALAKOKKO L PROCKOP DJ
Citation: Bp. Sokolov et al., G-MUTATION TO A-MUTATION IN THE TYPE-II PROCOLLAGEN GENE THAT CONVERTS GLYCINE-247 TO SERINE IN A FAMILY WITH SPONDYLOEPIPHYSEAL DYSPLASIA, American journal of human genetics, 53(3), 1993, pp. 1232-1232
MUTATION IN TYPE-II PROCOLLAGEN (COL2A1) THAT SUBSTITUTES ASPARTATE FOR GLYCINE ALPHA-1-67 AND THAT CAUSES CATARACTS AND RETINAL-DETACHMENT- EVIDENCE FOR MOLECULAR HETEROGENEITY IN THE WAGNER SYNDROME AND THESTICKLER SYNDROME (ARTHROOPHTHALMOPATHY)
Authors: KORKKO J RITVANIEMI P HAATAJA L KAARIAINEN H KIVIRIKKO KI PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., MUTATION IN TYPE-II PROCOLLAGEN (COL2A1) THAT SUBSTITUTES ASPARTATE FOR GLYCINE ALPHA-1-67 AND THAT CAUSES CATARACTS AND RETINAL-DETACHMENT- EVIDENCE FOR MOLECULAR HETEROGENEITY IN THE WAGNER SYNDROME AND THESTICKLER SYNDROME (ARTHROOPHTHALMOPATHY), American journal of human genetics, 53(1), 1993, pp. 55-61
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