Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Gene linked to brain malformation The identification of genetic loci linked to abnormal cortical development is complicated by genetic heterogeneity, small family sizes and diagnostic classifications that do not reflect molecular pathogenesis. These obstacles have been overcome in a study using whol...

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Veröffentlicht in:	Nature (London) Jg. 467; H. 7312; S. 207 - 210
Hauptverfasser:	Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakırcıoğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yılmaz, Sanem, Dinçer, Alp, Johnson, Michele H., Bronen, Richard A., Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçınkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P., State, Matthew W., Günel, Murat
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London Nature Publishing Group UK 09.09.2010 Nature Publishing Group
Schlagworte:	631/208/212 631/208/2489/144 631/378/1689/2608 Abnormalities Amino acids Animals Artificial chromosomes Base Sequence Brain - abnormalities Brain - growth & development Brain - pathology Brain diseases Brain Diseases - genetics Brain Diseases - pathology Cell Cycle Proteins Cerebral cortex DNA Mutational Analysis - methods DNA sequencing Enrichment Female Genes Genes, Recessive Genetic aspects Genetics Heterogeneity Human Human subjects Humanities and Social Sciences Humans Intellectual disabilities letter Loci Male Medical imaging Mice Microcephaly - genetics Microcephaly - pathology Molecular Sequence Data multidisciplinary Mutation Mutations Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Nucleotide sequencing Obstacles Pedigree Position (location) Proteins Schizencephaly Science Science (multidisciplinary) Sequencing Studies Technological change United States
ISSN:	0028-0836, 1476-4687, 1476-4687
Online-Zugang:	Volltext
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