(Q44285406)

English

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

scientific article published on 20 January 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

osteogenesis imperfecta

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object named as

Mustafa Tekin

5

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author name string

Wayne A Cabral

1

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Marianna V Mertts

2

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Elena Makareeva

3

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Alain Colige

4

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Arti Pandya

6

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Sergey Leikin

7

1 reference

Europe PubMed Central

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1 December 2017

Joan C Marini

8

1 reference

Europe PubMed Central

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1 December 2017

language of work or name

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publication date

20 January 2003

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Europe PubMed Central

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1 December 2017

Journal of Biological Chemistry

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Europe PubMed Central

PubMed publication ID

1 December 2017

278

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Europe PubMed Central

PubMed publication ID

1 December 2017

12

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Europe PubMed Central

PubMed publication ID

1 December 2017

10006-10012

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

The human type I collagen mutation database

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

The Human Collagen Mutation Database 1998.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Cyanine dye labeling reagents: sulfoindocyanine succinimidyl esters

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Type I collagen is thermally unstable at body temperature

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212523200

21 January 2018

Identifiers

10.1074/JBC.M212523200

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

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