(Q28143613)

1

0 references

D H Cohn

2

0 references

L Ala-Kokko

3

0 references

D Krakow

4

0 references

D J Prockop

American Journal of Medical Genetics Part A

5

0 references

language of work or name

English

0 references

publication date

15 May 2000

0 references

published in

0 references

volume

92

0 references

issue

2

0 references

page(s)

95-100

0 references

cites work

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Twinning: mechanisms and genetic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Achondrogenesis type II, abnormalities of extracellular matrix.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Collagens: molecular biology, diseases, and potentials for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C95%3A%3AAID-AJMG3%3E3.0.CO%3B2-9

10.1002/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

10797431

1 reference

Consolidated OpenCitations Corpus – April 2017