A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family-Reference-Cited by-同舟云学术

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

Published:2014-06-20 Issue:22 Volume:23 Page:5940-5949
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Khan Muzammil A.,Rupp Verena M.,Orpinell Meritxell,Hussain Muhammad S.,Altmüller Janine,Steinmetz Michel O.,Enzinger Christian,Thiele Holger,Höhne Wolfgang,Nürnberg Gudrun,Baig Shahid M.,Ansar Muhammad,Nürnberg Peter,Vincent John B.,Speicher Michael R.,Gönczy Pierre,Windpassinger Christian

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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