Literature DB >> 6664995

A nucleotide change in IVS 2 of a beta-thalassemia gene leads to a cryptic splice not at the site of the mutation.

C Dobkin, A Bank.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1983        PMID： 6664995

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


× No keyword cloud information.
  1 in total

1.  Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Authors:  Bertrand Boisson; Yoshitaka Honda; Masahiko Ajiro; Jacinta Bustamante; Matthieu Bendavid; Andrew R Gennery; Yuri Kawasaki; Jose Ichishima; Mitsujiro Osawa; Hiroshi Nihira; Takeshi Shiba; Takayuki Tanaka; Maya Chrabieh; Benedetta Bigio; Hong Hur; Yuval Itan; Yupu Liang; Satoshi Okada; Kazushi Izawa; Ryuta Nishikomori; Osamu Ohara; Toshio Heike; Laurent Abel; Anne Puel; Megumu K Saito; Jean-Laurent Casanova; Masatoshi Hagiwara; Takahiro Yasumi
Journal:  J Clin Invest       Date:  2018-12-18       Impact factor: 14.808
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.