EHLERS-DANLOS SYNDROME TYPE-IV - A GENETIC DISORDER IN MANY GUISES

[11] EHLERS-DANLOS-SYNDROME TYPE-IV - A SINGLE-BASE SUBSTITUTION OF THE LAST NUCLEOTIDE OF EXON-34 IN COL3A1 LEADS TO EXON SKIPPING [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 105 (03) : 352 - 356

[12] EXCLUSION OF MUTATIONS IN THE GENE FOR TYPE-III COLLAGEN (COL3A1) AS A COMMON-CAUSE OF INTRACRANIAL ANEURYSMS OR CERVICAL ARTERY DISSECTIONS - RESULTS FROM SEQUENCE-ANALYSIS OF THE CODING SEQUENCES OF TYPE-III COLLAGEN FROM 55 UNRELATED PATIENTS [J]. NEUROLOGY, 1993, 43 (12) : 2652 - 2658

[13] IS ACROGERIA A FIBROBLAST DISEASE - ULTRASTRUCTURAL STUDY [J]. DERMATOLOGICA, 1974, 148 (01): : 28 - 38

[14] DEFECT IN CONVERSION OF PROCOLLAGEN TO COLLAGEN IN A FORM OF EHLERS-DANLOS SYNDROME [J]. SCIENCE, 1973, 182 (4109) : 298 - 300

[15] MCKUSICK VA, 1972, HERITABLE DISORDERS, P292

[16] MILEWICZ DM, 1993, AM J HUM GENET, V53, P62

[17] EVIDENCE FOR A RELATIONSHIP BETWEEN EHLERS-DANLOS TYPE-VII-C IN HUMANS AND BOVINE DERMATOSPARAXIS [J]. NATURE GENETICS, 1992, 1 (03) : 214 - 217

[18] HERITABLE DISORDER OF CONNECTIVE-TISSUE - HYDROXYLYSINE-DEFICIENT COLLAGEN DISEASE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1972, 286 (19) : 1013 - &

[19] INHERITANCE OF EHLERS-DANLOS TYPE-4 SYNDROME [J]. JOURNAL OF MEDICAL GENETICS, 1977, 14 (03) : 200 - 204

[20] EDS-IV (ACROGERIA) - NEW AUTOSOMAL DOMINANT AND RECESSIVE TYPES [J]. JOURNAL OF THE ROYAL SOCIETY OF MEDICINE, 1980, 73 (03) : 180 - 186

[11] EHLERS-DANLOS-SYNDROME TYPE-IV - A SINGLE-BASE SUBSTITUTION OF THE LAST NUCLEOTIDE OF EXON-34 IN COL3A1 LEADS TO EXON SKIPPING [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 105 (03) : 352 - 356

[12] EXCLUSION OF MUTATIONS IN THE GENE FOR TYPE-III COLLAGEN (COL3A1) AS A COMMON-CAUSE OF INTRACRANIAL ANEURYSMS OR CERVICAL ARTERY DISSECTIONS - RESULTS FROM SEQUENCE-ANALYSIS OF THE CODING SEQUENCES OF TYPE-III COLLAGEN FROM 55 UNRELATED PATIENTS [J]. NEUROLOGY, 1993, 43 (12) : 2652 - 2658

[13] IS ACROGERIA A FIBROBLAST DISEASE - ULTRASTRUCTURAL STUDY [J]. DERMATOLOGICA, 1974, 148 (01): : 28 - 38

[14] DEFECT IN CONVERSION OF PROCOLLAGEN TO COLLAGEN IN A FORM OF EHLERS-DANLOS SYNDROME [J]. SCIENCE, 1973, 182 (4109) : 298 - 300

[15] MCKUSICK VA, 1972, HERITABLE DISORDERS, P292

[16] MILEWICZ DM, 1993, AM J HUM GENET, V53, P62

[17] EVIDENCE FOR A RELATIONSHIP BETWEEN EHLERS-DANLOS TYPE-VII-C IN HUMANS AND BOVINE DERMATOSPARAXIS [J]. NATURE GENETICS, 1992, 1 (03) : 214 - 217

[18] HERITABLE DISORDER OF CONNECTIVE-TISSUE - HYDROXYLYSINE-DEFICIENT COLLAGEN DISEASE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1972, 286 (19) : 1013 - &

[19] INHERITANCE OF EHLERS-DANLOS TYPE-4 SYNDROME [J]. JOURNAL OF MEDICAL GENETICS, 1977, 14 (03) : 200 - 204

[20] EDS-IV (ACROGERIA) - NEW AUTOSOMAL DOMINANT AND RECESSIVE TYPES [J]. JOURNAL OF THE ROYAL SOCIETY OF MEDICINE, 1980, 73 (03) : 180 - 186