(Q24517871)

2

0 references

S Bryce

3

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M Hall

4

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J L Rees

5

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L Kunkeler

6

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A Stephenson

7

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T Strachan

Journal of Medical Genetics

8

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language of work or name

English

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publication date

September 1994

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published in

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volume

31

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issue

9

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page(s)

675-8

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Easy calculations of lod scores and genetic risks on small computers

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Keratin and keratinization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Familial hidradenitis suppurativa: evidence in favour of single gene transmission

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Pachyonychia congenita Jadassohn-Lewandowsky: a disorder of keratinization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Keratins 1 and 10 or homologues as regular constituents of inner root sheath and cuticle cells in the human hair follicle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Patterns of phenotypic expression of human junctional, gingival and reduced enamel epithelia in vivo and in vitro

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Pachyonychia congenita; a report of six cases in one family, with a note on linkage data

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050075

The pathogenesis of hidradenitis suppurativa in man; experimental and histologic observations

29 November 2018

1 reference

12 December 2020

The extraction and characterization of human nail keratin

1 reference

12 December 2020

Pachyonychia Congenita With Epidermal Cysts and Other Congenital Dyskeratoses

1 reference

12 December 2020

Natal teeth and steatocystoma multiplex complicated by hidradenitis suppurativa. A new syndrome

1 reference

12 December 2020

Pachyonychia congenita with candidiasis

1 reference

12 December 2020

Pachyonychia congenita. Electron microscopic and epidermal glycoprotein assessment before and during isotretinoin treatment

1 reference

12 December 2020

Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome

1 reference

12 December 2020

Pachyonychia congenita with cutaneous amyloidosis and hyperpigmentation--a distinct variant

1 reference

12 December 2020

Pachyonychia congenita

1 reference

12 December 2020

A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors

1 reference

12 December 2020

Pachyonychia congenita complicated by hidradenitis suppurativa: a family study

1 reference

12 December 2020