| http://purl.uniprot.org/citations/8355785 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8355785 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8355785 | http://www.w3.org/2000/01/rdf-schema#comment | "Lissencephaly (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration. Identification of the gene(s) involved in this disorder would facilitate molecular dissection of normal events in brain development. Type 1 lissencephaly occurs either as an isolated abnormality or in association with dysmorphic facial appearance in patients with Miller-Dieker syndrome. About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kilobase region in chromosome 17p13.3 (ref. 6). These deletions are hemizygous, so haplo-insufficiency for a gene in this interval is implicated. Here we report the cloning of a gene (LIS-1, lissencephaly-1) in 17p13.3 that is deleted in Miller-Dieker patients. Non-overlapping deletions involving either the 5' or 3' end of the gene were found in two patients, identifying LIS-1 as the disease gene. The deduced amino-acid sequence shows significant homology to beta-subunits of heterotrimeric G proteins, suggesting that it could possibly be involved in a signal transduction pathway crucial for cerebral development."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.org/dc/terms/identifier | "doi:10.1038/364717a0"xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.org/dc/terms/identifier | "doi:10.1038/364717a0"xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Ledbetter D.H."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Ledbetter D.H."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Shen Y."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Shen Y."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Dobyns W.B."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Dobyns W.B."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Caskey C.T."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Caskey C.T."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Carrozzo R."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Carrozzo R."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Reiner O."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Reiner O."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Wehnert M."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Wehnert M."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Faustinella F."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/author | "Faustinella F."xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/name | "Nature"xsd:string |
| http://purl.uniprot.org/citations/8355785 | http://purl.uniprot.org/core/name | "Nature"xsd:string |