CLINICAL SCREENING FOR COLLAGEN DEFECTS IN CONNECTIVE-TISSUE DISEASES

[81] MOLECULAR DEFECTS OF TYPE-III PROCOLLAGEN IN EHLERS-DANLOS SYNDROME TYPE-IV [J]. HUMAN GENETICS, 1989, 82 (02) : 104 - 108

[82] SUPERTIFURGA A, 1988, J BIOL CHEM, V263, P6226

[83] SYKES B, 1990, AM J HUM GENET, V46, P293

[84] SYKES B, 1986, LANCET, V2, P69

[85] RECURRENCE RISKS AND PROGNOSIS IN SEVERE SPORADIC OSTEOGENESIS IMPERFECTA [J]. JOURNAL OF MEDICAL GENETICS, 1987, 24 (07) : 390 - 405

[86] TANDEM DUPLICATION WITHIN A TYPE-II COLLAGEN GENE (COL2A1) EXON IN AN INDIVIDUAL WITH SPONDYLOEPIPHYSEAL DYSPLASIA [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (10) : 3889 - 3893

[87] TROMP G, 1989, J BIOL CHEM, V264, P1349

[88] SINGLE BASE MUTATION IN THE PRO-ALPHA-2(I) COLLAGEN GENE THAT CAUSES EFFICIENT SPLICING OF RNA FROM EXON-27 TO EXON-29 AND SYNTHESIS OF A SHORTENED BUT IN-FRAME PRO-ALPHA-2(I) CHAIN [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (14) : 5254 - 5258

[89] TSIPOURAS P, 1984, AM J HUM GENET, V36, P1172

[90] TSIPOURAS P, 1986, HUM GENET, V74, P41

[81] MOLECULAR DEFECTS OF TYPE-III PROCOLLAGEN IN EHLERS-DANLOS SYNDROME TYPE-IV [J]. HUMAN GENETICS, 1989, 82 (02) : 104 - 108

[82] SUPERTIFURGA A, 1988, J BIOL CHEM, V263, P6226

[83] SYKES B, 1990, AM J HUM GENET, V46, P293

[84] SYKES B, 1986, LANCET, V2, P69

[85] RECURRENCE RISKS AND PROGNOSIS IN SEVERE SPORADIC OSTEOGENESIS IMPERFECTA [J]. JOURNAL OF MEDICAL GENETICS, 1987, 24 (07) : 390 - 405

[86] TANDEM DUPLICATION WITHIN A TYPE-II COLLAGEN GENE (COL2A1) EXON IN AN INDIVIDUAL WITH SPONDYLOEPIPHYSEAL DYSPLASIA [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (10) : 3889 - 3893

[87] TROMP G, 1989, J BIOL CHEM, V264, P1349

[88] SINGLE BASE MUTATION IN THE PRO-ALPHA-2(I) COLLAGEN GENE THAT CAUSES EFFICIENT SPLICING OF RNA FROM EXON-27 TO EXON-29 AND SYNTHESIS OF A SHORTENED BUT IN-FRAME PRO-ALPHA-2(I) CHAIN [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (14) : 5254 - 5258

[89] TSIPOURAS P, 1984, AM J HUM GENET, V36, P1172

[90] TSIPOURAS P, 1986, HUM GENET, V74, P41