Title : Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).

Pub. Date : 1998 Apr

PMID : 9617436






2 Functional Relationships(s)
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Protein Name
Organism
1 The underlying biochemical defect in EDS VI is a deficiency in lysyl hydroxylase (PLOD) activity resulting from mutations in the PLOD gene causing a low hydroxylysine content in various tissues. Hydroxylysine procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Homo sapiens
2 The underlying biochemical defect in EDS VI is a deficiency in lysyl hydroxylase (PLOD) activity resulting from mutations in the PLOD gene causing a low hydroxylysine content in various tissues. Hydroxylysine procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Homo sapiens