(Q33883998)

English

Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Ehlers-Danlos syndrome

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1 reference

based on heuristic

inferred from title

author name string

C Giunta

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

B Steinmann

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 January 2000

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

American Journal of Medical Genetics Part A

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Europe PubMed Central

PubMed publication ID

29 July 2017

90

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Europe PubMed Central

PubMed publication ID

29 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

72-79

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Type V collagen: molecular structure and fibrillar organization of the chicken alpha 1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Reduction of type V collagen using a dominant-negative strategy alters the regulation of fibrillogenesis and results in the loss of corneal-specific fibril morphology

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Diversity in the processing events at the N-terminus of type-V collagen

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Key role for a minor collagen

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000103%2990%3A1%3C72%3A%3AAID-AJMG13%3E3.0.CO%3B2-C

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(20000103)90:1<72::AID-AJMG13>3.0.CO;2-C

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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