A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani famil...
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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More information
Scope and Contents
Contents
Primary microcephaly is a disorder characterized by a small head and brain associated with impaired cognitive capabilities. Mutations in 13 different genes encoding centrosomal proteins and cell cycle regulators have been reported to cause the disease.
CASC5
, a gene encoding a protein important for kinetochore formation and proper chromosome...
Alternative Titles
Full title
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_1765980660
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1765980660
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-015-1619-5
