Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

Inherited limb malformations provide a valuable resource for the identification of genes involved in limb development 1 , 2 . Brachydactyly type B (BDB), an autosomal dominant disorder, is the most severe of the brachydactylies 3 and characterized by terminal deficiency of the fingers and toes. In t...

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Veröffentlicht in:	Nature genetics 2000-03, Vol.24 (3), p.275-278
Hauptverfasser:	Oldridge, Michael, M Fortuna, Ana, Maringa, Monika, Propping, Peter, Mansour, Sahar, Pollitt, Christine, DeChiara, Thomas M., Kimble, Robert B., Valenzuela, David M., Yancopoulos, George D., Wilkie, Andrew O.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Amino Acid Sequence Animal Genetics and Genomics Animals BDB1 gene Biological and medical sciences Biomedical and Life Sciences Biomedicine Brachydactyly Cancer Research Cell receptors chromosome 9 Chromosomes, Human, Pair 9 - genetics Diseases of the osteoarticular system Female Finger joint Fingers - abnormalities Fingers - embryology Frameshift Mutation Gene Function Gene mutations Genes, Dominant Genetic aspects Haplotypes Health aspects Heterozygote Human Genetics Humans Identification and classification Kinases letter Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mice Mice, Knockout Molecular Sequence Data Mutation Pedigree Phenotype Physiological aspects Receptor Protein-Tyrosine Kinases - deficiency Receptor Protein-Tyrosine Kinases - genetics Receptor Tyrosine Kinase-like Orphan Receptors Receptors, Cell Surface - deficiency Receptors, Cell Surface - genetics ROR2 gene Sequence Deletion
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