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Molecular genetics and genomics, Tập 1, Số 4, 2013
Mục lục:
DòngNội dung
1Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations / Melanie G. Pepin and others
2Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies / Oriel Carreno and others
3Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis / Katharina Keupp and others
4The CDC Hemophilia B mutation project mutation list: a new online resource / Tengguo Li and others
5Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseases / Roberta Spinelli and others
6Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening / Jodi D. Hoffman and others
7A novel ERAP2 haplotype structure in a Chilean population: implications for ERAP2 protein expression and preeclampsia risk / Derek L. Vanhille and others