(Q44489159)

English

Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823447%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823447%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

congenital ichthyosiform erythroderma

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Sarolta Kárpáti

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823447%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

Becker K

1

1 reference

Europe PubMed Central

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5 November 2019

Csikós M

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823447%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Sárdy M

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12823447%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Szalai ZS

4

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Europe PubMed Central

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5 November 2019

Horváth A

5

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5 November 2019

publication date

1 June 2003

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5 November 2019

Experimental Dermatology

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5 November 2019

12

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5 November 2019

3

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5 November 2019

324-329

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5 November 2019

The complexity and redundancy of epithelial barrier function

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Role of Sp1 response element in transcription of the human transglutaminase 1 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

A novel in situ method for the detection of deficient transglutaminase activity in the skin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

21 January 2018

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.120313.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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