(Q51986447)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

John P

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Ali G

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Ahmad W

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

8 May 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

Clinical and Experimental Dermatology

30 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

502-505

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17489990%20AND%20SRC:MED&resulttype=core&format=json

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X

Comprehensive human genetic maps: individual and sex-specific variation in recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X

Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X

An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X

A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2007.02413.X