Source:http://linkedlifedata.com/resource/pubmed/id/15979919
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-2
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| pubmed:dateCreated |
2005-10-5
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| pubmed:abstractText |
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient mutation detection in patients with EDS VIA. We report the results obtained in 9 index patients from 12 unrelated families: three patients were homozygous for three novel mutations (p.Ile454IlefsX2, p.Ala667Thr, and p.His706Arg), four patients were homozygous for the common duplication of exons 10-16, one patient was compound heterozygous for the common duplication and p.Ile454IlefsX2, and one patient was homozygous for p.Arg319X.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1096-7192
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
86
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
269-76
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:15979919-Adolescent,
pubmed-meshheading:15979919-Adult,
pubmed-meshheading:15979919-Amino Acid Sequence,
pubmed-meshheading:15979919-Animals,
pubmed-meshheading:15979919-Base Sequence,
pubmed-meshheading:15979919-Child,
pubmed-meshheading:15979919-Child, Preschool,
pubmed-meshheading:15979919-DNA, Complementary,
pubmed-meshheading:15979919-DNA Primers,
pubmed-meshheading:15979919-Ehlers-Danlos Syndrome,
pubmed-meshheading:15979919-Exons,
pubmed-meshheading:15979919-Female,
pubmed-meshheading:15979919-Homozygote,
pubmed-meshheading:15979919-Humans,
pubmed-meshheading:15979919-Kyphosis,
pubmed-meshheading:15979919-Male,
pubmed-meshheading:15979919-Molecular Sequence Data,
pubmed-meshheading:15979919-Mutation,
pubmed-meshheading:15979919-Polymerase Chain Reaction,
pubmed-meshheading:15979919-Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase,
pubmed-meshheading:15979919-Sequence Homology, Amino Acid
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| pubmed:articleTitle |
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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| pubmed:affiliation |
Division of Metabolism and Molecular Pediatrics, University Children's Hospital, CH-8032 Zurich, Switzerland. cecilia.giunta@kispi.unizh.ch
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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