Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1970 • 253,849 citations

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Short-Term Effects of Nose-Only Cigarette Smoke Exposure on Glutathione Redox Homeostasis, Cytochrome P450 1A1/2 and Respiratory Enzyme Activities in Mice Tissues

2013 • 47,043 citations

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

Heritable Disorders of Connective Tissue

1960 • 1,560 citations

SPLICING OF MESSENGER RNA PRECURSORS

1986 • 1,233 citations

Splicing of Messenger RNA Precursors

1987 • 919 citations

Splicing of Messenger RNA Precursors

1984 • 874 citations

International nosology of heritable disorders of connective tissue, Berlin, 1986

1988 • 704 citations

Heritable disorders of connective tissue

1955 • 445 citations

A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicing

1982 • 372 citations

Collagen Made of Extended alpha-Chains, Procollagen, in Genetically-Defective Dermatosparaxic Calves

1971 • 294 citations

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1973 • 257 citations

Procollagen Peptidase: An Enzyme Excising the Coordination Peptides of Procollagen

1971 • 232 citations

Splicing of Messenger RNA Precursors

1987 • 219 citations

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

1985 • 192 citations

ASSOCIATION OF CONGENITAL BICUSPID AORTIC VALVE AND ERDHEIM'S CYSTIC MEDIAL NECROSIS

1972 • 184 citations

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1980 • 160 citations

Organization of the human pro-alpha 2(I) collagen gene.

1987 • 156 citations

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1988 • 146 citations

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria

1987 • 129 citations

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

1986 • 120 citations

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

1989 • 117 citations

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.

1983 • 102 citations

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII

1989 • 99 citations

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

1985 • 87 citations

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.

1988 • 83 citations

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

1987 • 69 citations

Peptide Mapping of Collagen Chains Using CNBr Cleavage of Proteins Within Polyacrylamide Gels

1981 • 63 citations

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.

1988 • 57 citations

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

1988 • 41 citations