Sequence of PLOD1_HUMAN

procollagen-lysine 5-dioxygenase

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The DNA sequence and biological annotation of human chromosome 1.

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A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

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

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Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

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Giunta C.,Randolph A.,Al-Gazali L.I.,Brunner H.G.,Kraenzlin M.E.,Steinmann B.

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A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

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678969

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Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

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The consensus coding sequences of human breast and colorectal cancers.

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