Title : A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.

Pub. Date : 1999 May

PMID : 10329027






2 Functional Relationships(s)
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Protein Name
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1 The homozygous mutation, a single base change of C1557 --> G which would convert a codon for tyrosine (TAC) at residue 511 to a stop codon (TAG) in exon 14 of the LH1 gene, was identified in full-length cDNAs for LH1 amplified from the patient"s fibroblasts. Tyrosine procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Homo sapiens
2 The homozygous mutation, a single base change of C1557 --> G which would convert a codon for tyrosine (TAC) at residue 511 to a stop codon (TAG) in exon 14 of the LH1 gene, was identified in full-length cDNAs for LH1 amplified from the patient"s fibroblasts. Tyrosine procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Homo sapiens