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Literature DB >> 2992397

Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.

P Wordsworth, D Ogilvie, R Smith, B Sykes.

Abstract

We have used a high frequency site polymorphism within the human pro-alpha 1(II) collagen gene (COL2A1) in order to examine the segregation of this gene within a large pedigree with type II Ehlers-Danlos syndrome (EDS). The EDS gene and the collagen gene segregate independently within the pedigree and therefore COL2A1 can be excluded as the mutant locus.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1985 PMID： 2992397 PMCID： PMC1001671 DOI： 10.1136/ard.44.7.431

Source DB: PubMed Journal: Ann Rheum Dis ISSN： 0003-4967 Impact factor: 19.103

5 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. DNA in heritable disease.

Authors: B C Sykes
Journal: Lancet Date: 1983-10-01 Impact factor: 79.321

3. Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library.

Authors: E H Weiss; K S Cheah; F G Grosveld; H H Dahl; E Solomon; R A Flavell
Journal: Nucleic Acids Res Date: 1982-03-25 Impact factor: 16.971

4. Lethal osteogenesis imperfecta and a gene deletion.

Authors: B Sykes; D Ogilvie
Journal: Br Med J (Clin Res Ed) Date: 1984-05-05

5. Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.

Authors: F M Pope; K S Cheah; A C Nicholls; A B Price; F G Grosveld
Journal: Br Med J (Clin Res Ed) Date: 1984-02-11

5 in total

1. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

Authors: U Schwarze; M Atkinson; G G Hoffman; D S Greenspan; P H Byers
Journal: Am J Hum Genet Date: 2000-05-04 Impact factor: 11.025

5. Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care.

Authors: Amr Wardeh; Tyson Jackson; Beverly Nelson; Carl Ernst; Jean-François Théroux; Walla Al-Hertani; Andrew K Sobering; Mary C Maj
Journal: Clin Case Rep Date: 2018-10-15

5 in total

Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

2. DNA in heritable disease.

3. Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library.

4. Lethal osteogenesis imperfecta and a gene deletion.

5. Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.

1. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

2. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

3. Linkage analysis in Marfan syndrome.

4. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

5. Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care.