Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

Sparrow, D B; Chapman, G; Wouters, M A; Whittock, N V; Ellard, S; Fatkin, D; Turnpenny, P D; Kusumi, K; Sillence, D; Dunwoodie, S L

Sparrow, D B; Chapman, G; Wouters, M A; Whittock, N V; Ellard, S; Fatkin, D; Turnpenny, P D; Kusumi, K; Sillence, D; Dunwoodie, S L.

Affiliation

Sparrow DB; Developmental Biology Program, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.

Am J Hum Genet ; 78(1): 28-37, 2006 Jan.

Article in En | MEDLINE | ID: mdl-16385447

Subject(s)

Dysostoses/genetics; Glycosyltransferases/genetics; Models, Molecular; Mutation, Missense/genetics; Neural Tube Defects/genetics; Signal Transduction/genetics; Base Sequence; Blotting, Western; Cell Line; DNA Primers; Genes, Recessive; Glycosyltransferases/metabolism; Humans; Immunohistochemistry; Molecular Sequence Data; N-Acetylglucosaminyltransferases/metabolism; Polymorphism, Restriction Fragment Length; Receptors, Notch/metabolism; Sequence Analysis, DNA

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Signal Transduction / Models, Molecular / Glycosyltransferases / Mutation, Missense / Dysostoses / Neural Tube Defects Type of study: Etiology_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2006 Document type: Article

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