(Q48321020)

English

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

scientific article published on June 15, 1988

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Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/3372533

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta (English)

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10.1016/S0021-9258(18)68491-1

https://api.crossref.org/works/10.1016/S0021-9258(18)68491-1

3 January 2023

osteogenesis imperfecta

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chromosomal deletion syndrome

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3372533

3 January 2023

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10.1016/S0021-9258(18)68491-1

https://api.crossref.org/works/10.1016/S0021-9258(18)68491-1

3 January 2023

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10.1016/S0021-9258(18)68491-1

https://api.crossref.org/works/10.1016/S0021-9258(18)68491-1

3 January 2023

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M. C. Willing

1

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3 January 2023

D. H. Cohn

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3372533

3 January 2023

B. Starman

3

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3 January 2023

K. A. Holbrook

4

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3 January 2023

C. R. Greenberg

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3372533

3 January 2023

P. H. Byers

6

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3 January 2023

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1 June 1988

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10 February 2018

http://europepmc.org/abstract/MED/3372533

15 June 1988

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=3372533

3 January 2023

number of pages

7

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full work available at URL

http://intl.jbc.org/cgi/content/abstract/263/17/8398

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Europe PubMed Central

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3 January 2023

https://api.elsevier.com/content/article/PII:S0021925818684911?httpAccept=text/xml

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10.1016/S0021-9258(18)68491-1

https://api.crossref.org/works/10.1016/S0021-9258(18)68491-1

3 January 2023

https://api.elsevier.com/content/article/PII:S0021925818684911?httpAccept=text/plain

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10.1016/S0021-9258(18)68491-1

https://api.crossref.org/works/10.1016/S0021-9258(18)68491-1

3 January 2023

Journal of Biological Chemistry

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Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/3372533

263

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Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/3372533

17

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Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/3372533

8398-8404

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/3372533

Genetic heterogeneity in osteogenesis imperfecta

1

1 reference

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Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

2

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Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen

5

1 reference

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Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons

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

9

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Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

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Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

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

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author name string

Benson

publication date

1984

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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

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Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta

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Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

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PubMed publication ID

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Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/3372533

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