Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. (Q43581213)

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scientific article published on 5 July 2012

Language	Label	Description	Also known as
English	Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.	scientific article published on 5 July 2012

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scholarly article

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4 February 2020

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum (English)

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4 February 2020

osteogenesis imperfecta

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connective tissue

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inferred from title

Victor L Ruiz-Perez

14

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4 February 2020

Samia A Temtamy

2

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4 February 2020

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4 February 2020

Victor Martínez-Glez

5

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4 February 2020

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4 February 2020

Encarna Guillén Navarro

11

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4 February 2020

José A Caparrós-Martín

13

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4 February 2020

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Maria Trinidad Puig-Hervás

1

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4 February 2020

Maria Valencia

4

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4 February 2020

María Juliana Ballesta-Martínez

6

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4 February 2020

Vanesa López-González

7

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4 February 2020

Adel M Ashour

8

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4 February 2020

Veronica Pulido

10

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4 February 2020

Pablo Lapunzina

12

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4 February 2020

publication date

5 July 2012

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4 February 2020

33

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4 February 2020

10

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4 February 2020

1444-1449

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4 February 2020

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Cross-linking in collagen and elastin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

21 January 2018

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

7 January 2021

based on heuristic

inferred from DOI database lookup

Quantitation of hydroxypyridinium crosslinks in collagen by high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22133

7 January 2021

based on heuristic

inferred from DOI database lookup

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