(Q33546979)

27 July 2017

1 reference

title

Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis (English)

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epidermolytic hyperkeratosis

27 July 2017

main subject

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1 reference

Yang JM

1

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27 July 2017

Nam K

2

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27 July 2017

Kim SW

3

1 reference

27 July 2017

Jung SY

4

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27 July 2017

Min HG

5

1 reference

27 July 2017

Yeo UC

6

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27 July 2017

Park KB

7

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27 July 2017

Lee JH

8

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27 July 2017

Suhr KB

9

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27 July 2017

Park JK

10

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27 July 2017

Lee ES

11

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27 July 2017

publication date

1 February 1999

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Journal of Dermatological Science

27 July 2017

published in

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27 July 2017

volume

19

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27 July 2017

issue

2

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27 July 2017

page(s)

126-133

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JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins.

27 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Clinical heterogeneity in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Epidermolytic hyperkeratosis: applied molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Avoiding strand reassociation in direct sequencing of double-stranded PCR products with thermolabile polymerases

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1016%2FS0923-1811%2898%2900055-3

7 January 2021

10.1016/S0923-1811(98)00055-3

Identifiers

DOI

1 reference

27 July 2017

1 reference