leucine and Epidermolysis Bullosa Simplex

leucine has been researched along with Epidermolysis Bullosa Simplex in 1 studies

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (100.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Bauer, JW; Hametner, R; Hintner, H; Huber, A; Klausegger, A; Kofler, B; Kornacker, I; Muss, W; Pohla-Gubo, G; Rezniczek, GA; Rouan, F; Uitto, J; Wiche, G	1

Other Studies

1 other study(ies) available for leucine and Epidermolysis Bullosa Simplex

Article	Year
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. The American journal of pathology, 2001, Volume: 158, Issue:2 Topics: Base Sequence; Child, Preschool; Codon, Nonsense; DNA; DNA Mutational Analysis; Epidermolysis Bullosa Simplex; Family Health; Female; Heterozygote; Humans; Intermediate Filament Proteins; Leucine; Male; Microscopy, Electron; Mutagenesis, Insertional; Nuclear Family; Pedigree; Plectin; Skin	2001

Article

Year

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

The American journal of pathology, 2001, Volume: 158, Issue:2

Topics: Base Sequence; Child, Preschool; Codon, Nonsense; DNA; DNA Mutational Analysis; Epidermolysis Bullosa Simplex; Family Health; Female; Heterozygote; Humans; Intermediate Filament Proteins; Leucine; Male; Microscopy, Electron; Mutagenesis, Insertional; Nuclear Family; Pedigree; Plectin; Skin

2001