(Q24321763)

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Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta

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scholarly article

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Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta (English)

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osteogenesis imperfecta

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collagen type I alpha 1 chain

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GOA release 2020-03-11

skeletal system development

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GOA release 2020-03-11

author name string

D H Cohn

1

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X Zhang

2

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P H Byers

3

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language of work or name

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publication date

1993

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2

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1

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21-7

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Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

21 January 2018

Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial gene duplication as a cause of human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of the human fibrillar collagen genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Fibrillar collagen genes. Structure and expression in normal and diseased states

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

The family of collagen genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020105

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380020105

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release_7pdwvqmlrfcdfgamt2sa7jiir4

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