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
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
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
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
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
Citation: Lt. Smith et al., DERMAL COLLAGEN STRUCTURE IN EHLERS-DANLOS SYNDROME TYPE-IV, Journal of investigative dermatology, 104(4), 1995, pp. 625-625
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
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