2012-07-07から1日間の記事一覧

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.

Genomics. 1996 Sep 15;36(3):468-75. Lönnqvist L, Karttunen L, Rantamäki T, Kielty C, Raghunath M, Peltonen L. Source Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland. Abstract Fibrillin-1 is a lar…

Fibrillin 1

Protein attributes Sequence length 2871 AA. Sequence status Complete. Sequence processing The displayed sequence is further processed into a mature form. Protein existence Evidence at protein level General annotation (Comments) Function Fi…

細胞遺伝学的バンド命名法

G分染法により得られる典型パターンに従い、セントロメアからテロメアに向かって主要バンドに番号が付き、サブバンドを小数点以下の数字で表す。