| Interacting proteins: Q13751 and Q02388 |
Pubmed |
SVM Score :0.0 |
| These include mutations in the type 7 collagen gene ( COL7A1 ) in the dystrophic ( severely scarring ) forms of EB ; mutations in the laminin 5 genes ( LAMA 3 , LAMB 3 and LAMC 2 ) in a lethal ( Herlitz ) variant of junctional EB ; aberrations in the type 17 collagen gene ( COL17A1 ) in non lethal forms of junctional EB ; mutations in the alpha 6 and beta 4 integrin genes in a distinct hemidesmosomal variant of EB with congenital pyloric atresia ; and mutations in the plectin gene ( PLEC 1 ) in a form of EB associated with late onset muscular dystrophy . ^^^ |
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| Interacting proteins: Q13751 and Q02388 |
Pubmed |
SVM Score :0.0 |
| Non sense mutations on both alleles of either the type 7 collagen gene ( COL7A1 ) or the genes encoding laminin 5 ( LAMA 3 , LAMB 3 , or LAMC 2 ) usually result in clinically severe forms of recessive dystrophic or junctional epidermolysis bullosa , respectively . ^^^ In the recessive dystrophic epidermolysis bullosa patients , transcripts containing in frame skipping of exon 19 of COL7A1 in the cDNA were detected , and in the junctional epidermolysis bullosa patients transcripts with in frame skipping of exon 17 of LAMB 3 were identified . ^^^ |
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