Sökning: onr:"swepub:oai:DiVA.org:umu-96971" >
Palmoplantar Kerato...
Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda
-
- Zhao, Linshu (författare)
- Uppsala universitet,Medicinsk genetik
-
- Vahlquist, Anders (författare)
- Uppsala universitet,Dermatologi och venereologi
-
- Virtanen, Marie (författare)
- Uppsala universitet,Dermatologi och venereologi
-
visa fler...
-
Wennerstrand, Lena (författare)
-
Lind, Lisbet K. (författare)
-
- Lundström, Anita (författare)
- Umeå universitet,Dermatologi och venereologi
-
Pigg, Maritta Hellström (författare)
-
visa färre...
-
(creator_code:org_t)
- Medical Journals Limited, 2014
- 2014
- Engelska.
-
Ingår i: Acta Dermato-Venereologica. - : Medical Journals Limited. - 0001-5555 .- 1651-2057. ; 94:6, s. 707-710
- Relaterad länk:
-
https://doi.org/10.2...
-
visa fler...
-
https://uu.diva-port... (primary) (Raw object)
-
https://urn.kb.se/re...
-
https://doi.org/10.2...
-
https://urn.kb.se/re...
-
visa färre...
Abstract
Ämnesord
Stäng
- Palmoplantar keratoderma of the Gamborg-Nielsen type (PPK-GN) is a rare autosomal recessive skin disorder described in patients from Sweden. Mal de Meleda (MDM) is also a rare autosomal recessive inherited PPK first reported in 5 families from the island of Meleda. The 2 conditions phenotypically overlap and are characterised by palmoplantar erythematous hyperkeratotic plaques. The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1. In the present study we scrutinised individuals affected by PPK-GN for mutations in the SLURP1 gene and identified 2 different mutations. Fourteen Swedish patients were homozygous for a previously described mutation, c.43T>C, while one individual was a compound heterozygote with one copy of a novel mutation, c.280T>A, in addition to one copy of the c.43T>C mutation. Hereby we confirm that PPK-GN is an allelic variant of MDM.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Infektionsmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Infectious Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Dermatologi och venereologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Dermatology and Venereal Diseases (hsv//eng)
Nyckelord
- SLURP1
- mal de Meleda
- palmoplantar keratoderma
- Gamborg-Nielsen
- missense mutation
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas