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Results: 1-10 |
Results: 10
RECOMBINATION - A POSSIBLE SOURCE OF MUTATION IN COL3A1
Authors: ERICKSON E SCHWARZE U BYERS P
Citation: E. Erickson et al., RECOMBINATION - A POSSIBLE SOURCE OF MUTATION IN COL3A1, Journal of dental research, 77, 1998, pp. 1494-1494
EHLERS-DANLOS-SYNDROME TYPE VIIA AND VIIB RESULT FROM SPLICE-JUNCTIONMUTATIONS OR GENOMIC DELETIONS THAT INVOLVE EXON-6 IN THE COL1A1 AND COL1A2 GENES OF TYPE-I COLLAGEN
Authors: BYERS PH DUVIC M ATKINSON M ROBINOW M SMITH LT KRANE SM GREALLY MT LUDMAN M MATALON R PAUKER S QUANBECK D SCHWARZE U
Citation: Ph. Byers et al., EHLERS-DANLOS-SYNDROME TYPE VIIA AND VIIB RESULT FROM SPLICE-JUNCTIONMUTATIONS OR GENOMIC DELETIONS THAT INVOLVE EXON-6 IN THE COL1A1 AND COL1A2 GENES OF TYPE-I COLLAGEN, American journal of medical genetics, 72(1), 1997, pp. 94-105
MUTATIONS IN THE COL3A1 GENE RESULT IN THE EHLERS-DANLOS SYNDROME TYPE-IV AND ALTERATIONS THE SIZE AND DISTRIBUTION OF THE MAJOR COLLAGEN FIBRILS OF THE DERMIS
Authors: SMITH LT SCHWARZE U GOLDSTEIN J BYERS PH
Citation: Lt. Smith et al., MUTATIONS IN THE COL3A1 GENE RESULT IN THE EHLERS-DANLOS SYNDROME TYPE-IV AND ALTERATIONS THE SIZE AND DISTRIBUTION OF THE MAJOR COLLAGEN FIBRILS OF THE DERMIS, Journal of investigative dermatology, 108(3), 1997, pp. 241-247
SPLICING DEFECTS IN THE COL3A1 GENE - MARKED PREFERENCE FOR 5'-(DONOR) SPLICE-SITE MUTATIONS IN PATIENTS WITH EXON-SKIPPING MUTATIONS AND EHLERS-DANLOS-SYNDROME TYPE-IV
Authors: SCHWARZE U GOLDSTEIN JA BYERS PH
Citation: U. Schwarze et al., SPLICING DEFECTS IN THE COL3A1 GENE - MARKED PREFERENCE FOR 5'-(DONOR) SPLICE-SITE MUTATIONS IN PATIENTS WITH EXON-SKIPPING MUTATIONS AND EHLERS-DANLOS-SYNDROME TYPE-IV, American journal of human genetics, 61(6), 1997, pp. 1276-1286
THE DELETION OF 6 AMINO-ACIDS AT THE C-TERMINUS OF THE ALPHA-1(II) CHAIN CAUSES OVERMODIFICATION OF TYPE-II AND TYPE XI COLLAGEN - FURTHER EVIDENCE FOR THE ASSOCIATION BETWEEN SMALL DELETIONS IN COL2A1 AND KNIEST DYSPLASIA
Authors: WINTERPACHT A SUPERTIFURGA A SCHWARZE U STOSS H STEINMANN B SPRANGER J ZABEL B
Citation: A. Winterpacht et al., THE DELETION OF 6 AMINO-ACIDS AT THE C-TERMINUS OF THE ALPHA-1(II) CHAIN CAUSES OVERMODIFICATION OF TYPE-II AND TYPE XI COLLAGEN - FURTHER EVIDENCE FOR THE ASSOCIATION BETWEEN SMALL DELETIONS IN COL2A1 AND KNIEST DYSPLASIA, Journal of Medical Genetics, 33(8), 1996, pp. 649-654
NONRADIOACTIVE MULTIPLEX-SSCP ANALYSIS - DETECTION OF A NEW TYPE-II PROCOLLAGEN GENE (COL2A1) MUTATION
Authors: WINTERPACHT A HILBERT K SCHWARZE U ZABEL B
Citation: A. Winterpacht et al., NONRADIOACTIVE MULTIPLEX-SSCP ANALYSIS - DETECTION OF A NEW TYPE-II PROCOLLAGEN GENE (COL2A1) MUTATION, Human genetics, 95(4), 1995, pp. 437-439
DERMAL COLLAGEN STRUCTURE IN EHLERS-DANLOS SYNDROME TYPE-IV
Authors: SMITH LT SCHWARZE U GOLDSTEIN J BYERS PH
Citation: Lt. Smith et al., DERMAL COLLAGEN STRUCTURE IN EHLERS-DANLOS SYNDROME TYPE-IV, Journal of investigative dermatology, 104(4), 1995, pp. 625-625
AUTOSOMAL-DOMINANT SPONDYLARTHROPATHY DUE TO A TYPE-II PROCOLLAGEN GENE (COL2A1) POINT MUTATION
Authors: WINTERPACHT A HILBERT M SCHWARZE U MUNDLOS S SPRANGER J ZABEL B
Citation: A. Winterpacht et al., AUTOSOMAL-DOMINANT SPONDYLARTHROPATHY DUE TO A TYPE-II PROCOLLAGEN GENE (COL2A1) POINT MUTATION, Human mutation, 4(4), 1994, pp. 257-262
ALTERNATIVE SPLICING AS THE RESULT OF A TYPE-II PROCOLLAGEN GENE (COL2A1) MUTATION IN A PATIENT WITH KNIEST DYSPLASIA
Authors: WINTERPACHT A SCHWARZE U MUNDLOS S MENGER H SPRANGER J ZABEL B
Citation: A. Winterpacht et al., ALTERNATIVE SPLICING AS THE RESULT OF A TYPE-II PROCOLLAGEN GENE (COL2A1) MUTATION IN A PATIENT WITH KNIEST DYSPLASIA, Human molecular genetics, 3(10), 1994, pp. 1891-1893
A TOUGH NEW STANDARD FOR ELECTROMAGNETIC COMPATIBILITY
Authors: SCHWARZE U
Citation: U. Schwarze, A TOUGH NEW STANDARD FOR ELECTROMAGNETIC COMPATIBILITY, Siemens Review, 61(3), 1994, pp. 12-13
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