A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

J Hum Genet. 2016 Mar;61(3):271-3. doi: 10.1038/jhg.2015.138. Epub 2015 Dec 10.

Authors

Muhammad Farooq¹, Ambrin Fatima², Yuan Mang¹, Lars Hansen¹, Klaus Wilbrandt Kjaer¹, Shahid Mahmood Baig², Lars Allan Larsen¹, Niels Tommerup¹

Affiliations

¹ Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
² Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan.

PMID: 26657937
DOI: 10.1038/jhg.2015.138

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Carrier Proteins / genetics*
Female
Humans
Male
Microcephaly / genetics*
Mutation*
Pakistan
Pedigree
RNA Splicing*

Substances

CEP135 protein, human
Carrier Proteins