(Q50609840)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25557232%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Novel KRT83 and KRT86 mutations associated with monilethrix (English)

1 reference

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26 February 2020

1

1 reference

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26 February 2020

5

Fanny Morice-Picard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25557232%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Maaike Vreeburg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25557232%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Maria T Urbina

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25557232%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Paul López

4

1 reference

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26 February 2020

Michel van Geel

6

1 reference

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26 February 2020

publication date

1 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25557232%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

published in

Experimental Dermatology

1 reference

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26 February 2020

volume

24

1 reference

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26 February 2020

issue

3

1 reference

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26 February 2020

page(s)

222-224

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25557232%20AND%20SRC:MED&resulttype=core&format=json

A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

26 February 2020

cites work

1 reference

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

21 January 2018

1 reference

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

21 January 2018

1 reference

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

21 January 2018

1 reference

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

21 January 2018

1 reference

The genetic basis of pachyonychia congenita.

21 January 2018

1 reference

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing

21 January 2018

1 reference

The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins

21 January 2018

1 reference

The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle

21 January 2018

1 reference

De novo mutations in monilethrix

21 January 2018

1 reference