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Molecular genetics and genomics, Tập 1, Số 3, 2013
Mục lục:
DòngNội dung
1Challenges of diagnostic exome sequencing in an inbred founder population / Dimitar N. Azmanov and others
2Demonstration of novel gain-of-function mutations of aIIbb3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype / Hirokazu Kashiwagi and others
3Prevalence of selected genomic deletions and duplications in a French–Canadian population-based sample of newborns / Tracy Tucker and others
4A novel ERAP2 haplotype structure in a Chilean population: implications for ERAP2 protein expression and preeclampsia risk / Derek L. Vanhille and others
5A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis / Jeydith A. Gutierrez and others
6A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA / Susan M. Kirwin and others