IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE FIBRILLIN GENE (FBN1) USING NONISOTOPIC TECHNIQUES

[1] BUDOWLE B, 1991, AM J HUM GENET, V48, P137

[2] DEITZ HC, 1991, NATURE, V352, P337

[3] Dietz Harry C., 1992, Human Mutation, V1, P366, DOI 10.1002/humu.1380010504

[4] MARFAN PHENOTYPE VARIABILITY IN A FAMILY SEGREGATING A MISSENSE MUTATION IN THE EPIDERMAL GROWTH-FACTOR LIKE MOTIF OF THE FIBRILLIN GENE [J]. JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (05) : 1674 - 1680

[5] THE MARFAN-SYNDROME LOCUS - CONFIRMATION OF ASSIGNMENT TO CHROMOSOME-15 AND IDENTIFICATION OF TIGHTLY LINKED MARKERS AT 15Q15-Q21.3 [J]. GENOMICS, 1991, 9 (02) : 355 - 361

[6] DIETZ HC, 1992, 2ND INT S MARF SYNDR

[7] GODFREY M, 1990, AM J HUM GENET, V46, P652

[8] HEWITT DR, 1993, HUM MOL GENET, V2, P475

[9] IMMUNOHISTOLOGIC ABNORMALITIES OF THE MICROFIBRILLAR-FIBER SYSTEM IN THE MARFAN-SYNDROME [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (03) : 152 - 159

[10] 2 MUTATIONS IN MARFAN-SYNDROME RESULTING IN TRUNCATED FIBRILLIN POLYPEPTIDES [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (13) : 5917 - 5921

[1] BUDOWLE B, 1991, AM J HUM GENET, V48, P137

[2] DEITZ HC, 1991, NATURE, V352, P337

[3] Dietz Harry C., 1992, Human Mutation, V1, P366, DOI 10.1002/humu.1380010504

[4] MARFAN PHENOTYPE VARIABILITY IN A FAMILY SEGREGATING A MISSENSE MUTATION IN THE EPIDERMAL GROWTH-FACTOR LIKE MOTIF OF THE FIBRILLIN GENE [J]. JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (05) : 1674 - 1680

[5] THE MARFAN-SYNDROME LOCUS - CONFIRMATION OF ASSIGNMENT TO CHROMOSOME-15 AND IDENTIFICATION OF TIGHTLY LINKED MARKERS AT 15Q15-Q21.3 [J]. GENOMICS, 1991, 9 (02) : 355 - 361

[6] DIETZ HC, 1992, 2ND INT S MARF SYNDR

[7] GODFREY M, 1990, AM J HUM GENET, V46, P652

[8] HEWITT DR, 1993, HUM MOL GENET, V2, P475

[9] IMMUNOHISTOLOGIC ABNORMALITIES OF THE MICROFIBRILLAR-FIBER SYSTEM IN THE MARFAN-SYNDROME [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (03) : 152 - 159

[10] 2 MUTATIONS IN MARFAN-SYNDROME RESULTING IN TRUNCATED FIBRILLIN POLYPEPTIDES [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (13) : 5917 - 5921