Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
- 4 May 2012
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 90 (5), 888-892
- https://doi.org/10.1016/j.ajhg.2012.03.020
Abstract
No abstract availableThis publication has 19 references indexed in Scilit:
- Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaNature Genetics, 2011
- Differential Regulation of the TRAIL Death Receptors DR4 and DR5 by the Signal Recognition ParticleMolecular Biology of the Cell, 2004
- Mutations in SEC63 cause autosomal dominant polycystic liver diseaseNature Genetics, 2004
- Identification of eight members of the Argonaute family in the human genome☆Genomics, 2003
- Signal recognition particle components in the nucleolusProceedings of the National Academy of Sciences of the United States of America, 2000
- MyelodysplasiaThe New England Journal of Medicine, 1999
- Parametric and nonparametric linkage analysis: a unified multipoint approach.1996
- Autoantibodies in the diagnosis of systemicrheumatic diseasesSeminars in Arthritis and Rheumatism, 1995
- Assembly of the 68- and 72-kD proteins of signal recognition particle with 7S RNA.The Journal of cell biology, 1993
- Each of the activities of signal recognition particle (SRP) is contained within a distinct domain: Analysis of biochemical mutants of SRPCell, 1988