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Mutations in CEP57 ...
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
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Snape, Katie (author)
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Hanks, Sandra (author)
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Ruark, Elise (author)
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Barros-Nunez, Patricio (author)
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Elliott, Anna (author)
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Murray, Anne (author)
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Lane, Andrew H. (author)
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Shannon, Nora (author)
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Callier, Patrick (author)
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Chitayat, David (author)
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Clayton-Smith, Jill (author)
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FitzPatrick, David R. (author)
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- Gisselsson Nord, David (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Jacquemont, Sebastien (author)
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Asakura-Hay, Keiko (author)
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Micale, Mark A. (author)
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Tolmie, John (author)
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Turnpenny, Peter D. (author)
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Wright, Michael (author)
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Douglas, Jenny (author)
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Rahman, Nazneen (author)
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(creator_code:org_t)
- 2011-05-08
- 2011
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:6, s. 527-529
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Abstract
Subject headings
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- Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Snape, Katie
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Hanks, Sandra
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Ruark, Elise
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Barros-Nunez, Pa ...
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Elliott, Anna
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Murray, Anne
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show more...
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Lane, Andrew H.
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Shannon, Nora
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Callier, Patrick
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Chitayat, David
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Clayton-Smith, J ...
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FitzPatrick, Dav ...
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Gisselsson Nord, ...
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Jacquemont, Seba ...
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Asakura-Hay, Kei ...
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Micale, Mark A.
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Tolmie, John
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Turnpenny, Peter ...
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Wright, Michael
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Douglas, Jenny
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Rahman, Nazneen
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Genetics
- By the university
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Lund University