A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.
about
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defectsHeterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de MeledaPalmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient micePalmoplantar Keratoderma in Slurp2-Deficient MiceGenetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Mal de Meleda: A Focused Review.The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean regionImmunohistological study of tight junction protein expression in mal de Meleda.Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses.
P2860
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P2860
A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A novel missense mutation in t ...... Meleda from northern Tunisia.
@ast
A novel missense mutation in t ...... Meleda from northern Tunisia.
@en
A novel missense mutation in t ...... Meleda from northern Tunisia.
@nl
type
label
A novel missense mutation in t ...... Meleda from northern Tunisia.
@ast
A novel missense mutation in t ...... Meleda from northern Tunisia.
@en
A novel missense mutation in t ...... Meleda from northern Tunisia.
@nl
prefLabel
A novel missense mutation in t ...... Meleda from northern Tunisia.
@ast
A novel missense mutation in t ...... Meleda from northern Tunisia.
@en
A novel missense mutation in t ...... Meleda from northern Tunisia.
@nl
P2093
P2860
P1476
A novel missense mutation in t ...... Meleda from northern Tunisia.
@en
P2093
Abdelhak S
Baccouche D
Ben Mousli R
Ben Osman A
Boubaker S
Bouchlaka C
Charfeddine C
Ghedamsi S
P2860
P304
P356
10.1111/J.1365-2133.2003.05606.X
P407
P577
2003-12-01T00:00:00Z