Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Marshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically similar to the more common disorder Stickler syndrome. For a large kindred with Marshall syndrome, we demonstrate a splice-donor-site mutation in the COL11A1 gene that cosegregates with the phenotype. The G+1--...

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Hlavní autoři: Griffith, A J, Sprunger, L K, Sirko-Osadsa, D A, Tiller, G E, Meisler, M H, Warman, M L
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377029/
https://ncbi.nlm.nih.gov/pubmed/9529347
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