Investigation of primary microcephaly in Bushehr province of Iran: Novel STIL and ASPM mutations

Clinical Genetics

Volumn 83, Issue 5, 2013, Pages 488-490

  Papari, E ^a   Bastami, M ^a   Farhadi, A ^b   Abedini, Ss ^a   Hosseini, M ^a   Bahman, I ^a   Mohseni, M ^a   Garshasbi, M ^a,c   Moheb, L Abbasi ^a,c   Behjati, F ^a   Kahrizi, K ^a   Ropers, H H ^c   Najmabadi, H ^a  

^a UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^b Bushehr Social Welfare and Rehabilitation Organization   (Iran)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENOMIC DNA;

ASPM GENE; AUTISM; CHROMOSOME ABERRATION; CONSANGUINEOUS MARRIAGE; DNA EXTRACTION; DNA SEQUENCE; EXON; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; HOMOZYGOSITY; HUMAN; IRAN; KARYOTYPING; LETTER; MICROCEPHALY; MICROSATELLITE MARKER; MISSENSE MUTATION; PRIORITY JOURNAL; SEIZURE; SHORT STATURE; SPASTICITY; STIL GENE; STRABISMUS; SYNDACTYLY;

CONSANGUINITY; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; IRAN; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84875902275     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01949.x     Document Type: Letter

References (6)

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4. Marchal JA, Ghani M, Schindler D et al. Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle 2011: 10 (17): 2967-2977.
5. Nicholas AK, Swanson EA, Cox JJ et al. The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet 2009: 46 (4): 249-253.
6. Kumar A, Girimaji SC, Duvvari MR et al. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet 2009: 84 (2): 286-290.