No | 記事 | 記事著者 |
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1 | Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with .. | Kenichiro Yamada, Yasukazu Yamada, ... |
2 | The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex 2 in the ... | Anne-Paule Gimenez-Roqueplo, Judith Favier, ... |
3 | Mutations in the Fukutin-Related Protein Gene(FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin ... | Martin Brockington, Derek J. Blake, ... |