(Q48141000)

English

A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

osteogenesis imperfecta

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author name string

Wirtz MK

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

Rao VH

2

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

Glanville RW

3

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

Labhard ME

4

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

Pretorius PJ

5

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

de Vries WN

6

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

de Wet WJ

7

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

Hollister DW

8

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

publication date

1 January 1993

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

Connective Tissue Research

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

29

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

1

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

1-11

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

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

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

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/10.3109%2F03008209309061961

21 January 2018

A procedure for selective full length cDNA cloning of specific RNA species

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

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/10.3109%2F03008209309061961

21 January 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

The collagen-binding site of type-II units of bovine seminal fluid protein PDC-109 and fibronectin.

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

Expression and localization of the two small proteoglycans biglycan and decorin in developing human skeletal and non-skeletal tissues

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

https://api.crossref.org/works/10.3109%2F03008209309061961

21 January 2018

Identifiers

10.3109/03008209309061961

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/8339541

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