Autosomal recessive congenital ichthyosis (Q83811047)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19434086%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Autosomal recessive congenital ichthyosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19434086%20AND%20SRC:MED&resulttype=core&format=json

autosomal recessive congenital ichthyosis

27 January 2020

main subject

0 references

author name string

Judith Fischer

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19434086%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

language of work or name

English

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publication date

1 June 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19434086%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

27 January 2020

published in

1 reference

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27 January 2020

volume

129

1 reference

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27 January 2020

issue

6

1 reference

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27 January 2020

page(s)

1319-1321

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The hepoxilin connection in the epidermis

27 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.57

7 January 2021