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  Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Hu, H., Suckow, V., Musante, L., Roggenkamp, V., Kraemer, N., Ropers, H. H., et al. (2014). Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle, 13(10), 1650-1651. doi:10.4161/cc.28706.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0025-C2E8-5 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0025-C2E9-3
Genre: Journal Article

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Hu.pdf (Publisher version), 1008KB
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© 2014 Informa UK Limited, an Informa Group Company
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http://www.ncbi.nlm.nih.gov/pubmed/24691052 (Any fulltext)
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 Creators:
Hu, H.1, Author           
Suckow, V.2, Author           
Musante, L.3, Author           
Roggenkamp, V., Author
Kraemer, N., Author
Ropers, H. H.1, Author           
Hübner, C., Author
Wienker, T. F.4, Author           
Kaindl, A. M., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Signal Transduction in Mental Retardation and Pain (Tim Hucho), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479646              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
4Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, 1479643              

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Free keywords: MCPH, ASPM, congenital microcephaly, intellectual deficit, compound heterozygous mutation, Reunion paradox
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Language(s): eng - English
 Dates: 2014-04-012014
 Publication Status: Issued
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.4161/cc.28706
ISSN: 1551-4005 (Electronic)1551-4005 (Print)
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Title: Cell Cycle
Source Genre: Journal
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Publ. Info: Georgetown, TX : Landes Bioscience
Pages: - Volume / Issue: 13 (10) Sequence Number: - Start / End Page: 1650 - 1651 Identifier: ISSN: 1538-4101
CoNE: https://pure.mpg.de/cone/journals/resource/111088196488836