A missense mutation in the PISA domain of HsSAS-6 causes...

Human Molecular Genetics 2014 / 11 Vol. 23; Iss. 22

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Khan, M. A., Rupp, V. M., Orpinell, M., Hussain, M. S., Altmuller, J., Steinmetz, M. O., Enzinger, C., Thiele, H., Hohne, W., Nurnberg, G., Baig, S. M., Ansar, M., Nurnberg, P., Vincent, J. B., Speich
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Volume:
23
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddu318
Date:
November, 2014
File:
PDF, 949 KB
english, 2014
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