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

Human Molecular Genetics

Volumn 23, Issue 22, 2014, Pages 5940-5949

  Khan, Muzammil A ^a   Rupp, Verena M ^b   Orpinell, Meritxell ^c   Hussain, Muhammad S ^d   Altmüller, Janine ^d,e   Steinmetz, Michel O ^f   Enzinger, Christian ^b   Thiele, Holger ^d   Höhne, Wolfgang ^d   Nürnberg, Gudrun ^d   Baig, Shahid M ^g   Ansar, Muhammad ^h   Nürnberg, Peter ^d,e   Vincent, John B ⁱ   Speicher, Michael R ^b   Gönczy, Pierre ^c   Windpassinger, Christian ^b  

^a GOMAL UNIVERSITY   (Pakistan)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c EPFL   (Switzerland)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f PAUL SCHERRER INSTITUTE   (Switzerland)

^g NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^h QUAID I AZAM UNIVERSITY   (Pakistan)

ⁱ CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

HSSAS 6 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; SASS6 PROTEIN, HUMAN;

ADULT; ANTHROPOMETRIC PARAMETERS; ARTICLE; ASYMMETRIC CELL DIVISION; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY; CAENORHABDITIS ELEGANS; CASE REPORT; CELL CYCLE; CENTRIOLE; CHILD; CHROMOSOME 1; CHROMOSOME 1P; CHROMOSOME MUTATION; CHROMOSOME SUBSTITUTION; CHROMOSOME VARIANT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; EXOME; FAMILY ASSESSMENT; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; MICROCEPHALY; MISSENSE MUTATION; PAKISTANI; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE CULTURE CELL; WILD TYPE; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHEMISTRY; GENETICS; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SEQUENCE ALIGNMENT;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HUMANS; MALE; MICROCEPHALY; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT;

EID: 84908114447     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu318     Document Type: Article

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