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Molecular genetics and genomics, Tập 1, Số 2, 2013
Mục lục:
DòngNội dung
1How will genomic information become integrated into the health care system? / Uta Francke
2Challenges of diagnostic exome sequencing in an inbred founder population / Dimitar N. Azmanov and others
3Demonstration of novel gain-of-function mutations of aIIbb3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype / Hirokazu Kashiwagi and others
4Prevalence of selected genomic deletions and duplications in a French–Canadian population-based sample of newborns / Tracy Tucker and others
5A novel ERAP2 haplotype structure in a Chilean population: implications for ERAP2 protein expression and preeclampsia risk / Derek L. Vanhille and others
6A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis / Jeydith A. Gutierrez and others
7A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA / Susan M. Kirwin and others