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searching for Epidermolysis bullosa simplex 7 found (157 total)

alternate case: epidermolysis bullosa simplex

Keratin 14 (1,175 words) [view diff] exact match in snippet view article find links to article

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and dermatopathia pigmentosa reticularis, both of which are

Plectin (2,459 words) [view diff] exact match in snippet view article find links to article

to the junction. Mutations in PLEC have been associated with epidermolysis bullosa simplex with muscular dystrophy. A missense variant of PLEC has been

The Resilience Project (691 words) [view diff] case mismatch in snippet view article find links to article

Cystic fibrosis Smith–Lemli–Opitz syndrome Familial dysautonomia Epidermolysis Bullosa simplex Pfeiffer syndrome Autoimmune polyendocrine syndrome type 1 (APECED)

Institute of Genomics and Integrative Biology (2,215 words) [view diff] case mismatch in snippet view article find links to article

L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India". Human Genome

Collagen, type VII, alpha 1 (2,218 words) [view diff] exact match in snippet view article find links to article

PMID 2537292. Fine JD, Johnson L, Wright T (May 1989). "Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized

Vinod Scaria (3,167 words) [view diff] case mismatch in snippet view article find links to article

L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India". Human Genome

Small interfering RNA (6,827 words) [view diff] exact match in snippet view article find links to article

potential has also been assessed for various skin disorders like epidermolysis bullosa simplex (Atkinson et al. 2011), epidermolytic palmoplantar keratoderma