Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
about
Human microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2.A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.Autosomal recessive primary microcephaly due to ASPM mutations: An update.Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.Primary microcephaly caused by novel compound heterozygous mutations in ASPM.Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
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P2860
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
description
2016 nî lūn-bûn
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2016年の論文
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name
Molecular and phenotypic spect ...... tion of eight novel mutations.
@en
Molecular and phenotypic spect ...... tion of eight novel mutations.
@nl
type
label
Molecular and phenotypic spect ...... tion of eight novel mutations.
@en
Molecular and phenotypic spect ...... tion of eight novel mutations.
@nl
prefLabel
Molecular and phenotypic spect ...... tion of eight novel mutations.
@en
Molecular and phenotypic spect ...... tion of eight novel mutations.
@nl
P2093
P2860
P356
P1476
Molecular and phenotypic spect ...... tion of eight novel mutations.
@en
P2093
Hebatallh A Darwish
Laila K Effat
Manal F Ismail
Mohamed S Abdel-Hamid
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P304
P356
10.1002/AJMG.A.37724
P407
P577
2016-06-02T00:00:00Z