(Q34595345)

3 August 2017

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta (English)

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3 August 2017

osteogenesis imperfecta

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Aileen M Barnes

1

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3 August 2017

Weizhong Chang

2

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3 August 2017

Roy Morello

3

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3 August 2017

Wayne A Cabral

4

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3 August 2017

MaryAnn Weis

5

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3 August 2017

David R Eyre

6

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3 August 2017

Sergey Leikin

7

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3 August 2017

Elena Makareeva

8

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3 August 2017

Natalia Kuznetsova

9

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3 August 2017

Thomas E Uveges

10

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3 August 2017

Aarthi Ashok

11

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3 August 2017

Armando W Flor

12

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3 August 2017

John J Mulvihill

13

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3 August 2017

Patrick L Wilson

14

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3 August 2017

Usha T Sundaram

15

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3 August 2017

Brendan Lee

16

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3 August 2017

Joan C Marini

17

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3 August 2017

language of work or name

English

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publication date

1 December 2006

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The New England Journal of Medicine

3 August 2017

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3 August 2017

355

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3 August 2017

26

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3 August 2017

2757-2764

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Prolyl 3-Hydroxylase: Partial Characterization of the Enzyme from Rat Kidney Cortex

3 August 2017

1 reference

12 December 2020

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

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12 December 2020

Genetic heterogeneity in osteogenesis imperfecta

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12 December 2020

cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein.

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12 December 2020

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.

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12 December 2020

Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.

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12 December 2020

Homozygous osteogenesis imperfecta unlinked to collagen I genes

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12 December 2020

Osteogenesis imperfecta type VII maps to the short arm of chromosome 3

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12 December 2020

Formation of the triple helix of type I procollagen in cellulo. Temperature-dependent kinetics support a model based on cis in equilibrium trans isomerization of peptide bonds.

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12 December 2020

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

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12 December 2020

cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).

1 reference

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

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12 December 2020

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible

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12 December 2020

The covalent structure of collagen. Amino-acid sequence of peptide 1-CB6-C2.

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12 December 2020

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

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12 December 2020

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

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12 December 2020

Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein

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12 December 2020

The Primary Structure of Collagen

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12 December 2020

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

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12 December 2020

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta

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12 December 2020

Type V osteogenesis imperfecta: a new form of brittle bone disease

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12 December 2020

Identifiers

DOI

10.1056/NEJMOA063804

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3 August 2017

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