(Q45429150)

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Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency

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Europe PubMed Central

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14 December 2017

Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency (English)

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Europe PubMed Central

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14 December 2017

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author name string

Wei Wang

1

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14 December 2017

Lijun Huang

2

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14 December 2017

Qiuling Ma

3

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14 December 2017

Deqian Xiao

4

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14 December 2017

Xiaodan Chen

5

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14 December 2017

Zhigang Yang

6

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14 December 2017

Xiaoying Wang

7

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14 December 2017

Keyuan Zhou

8

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14 December 2017

Gang Li

9

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14 December 2017

Man Xiao

10

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14 December 2017

Guankui Du

11

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14 December 2017

Xinbao Hao

12

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14 December 2017

Wangwei Cai

13

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14 December 2017

publication date

21 April 2011

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14 December 2017

Journal of Human Genetics

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14 December 2017

56

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14 December 2017

6

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14 December 2017

460-463

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14 December 2017

Factor XIII deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

Subunit antigen and activity levels of blood coagulation factor XIII in healthy individuals. Relation to sex, age, smoking, and hypertension.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

Transcriptional regulation of cell type-specific expression of the TATA-less A subunit gene for human coagulation factor XIII.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

Identification of an intronic regulatory element in the human protein C ( PROC) gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

Efficient transcription of the human angiotensin II type 2 receptor gene requires intronic sequence elements

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

The first intron of the human alpha2(I) collagen gene (COL1A2) contains a novel interferon-gamma responsive element

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

Transcription of the human uncoupling protein 3 gene is governed by a complex interplay between the promoter and intronic sequences

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

21 January 2018

Factor XIII Deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

7 January 2021

based on heuristic

inferred from DOI database lookup

Factor XIII deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.41

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2011.41

1 reference

Europe PubMed Central

PubMed publication ID

14 December 2017

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PubMed publication ID

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Europe PubMed Central

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14 December 2017

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