Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 190, doi. 10.1002/humu.20613
- By:
- Publication type:
- Article
Works matching AU Ren, Zhao‐Rui
Results: 17
1
2
Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene.
- Published in:
- Genes, 2022, v. 13, n. 9, p. 1558, doi. 10.3390/genes13091558
- By:
- Publication type:
- Article
3
Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification.
- Published in:
- 1990
- By:
- Publication type:
- journal article
4
Hemoglobin Chongqing [α2(NA2)LEU→ARG] and Hemoglobin Harbin [α16(A14)LYS→MET] Found in China.
- Published in:
- Hemoglobin, 1984, v. 8, n. 6, p. 569, doi. 10.3109/03630268408991742
- By:
- Publication type:
- Article
5
Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb‐Girdel Muscular Dystropy Model.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 663, doi. 10.1111/cge.14330
- By:
- Publication type:
- Article
6
A NOVEL β-THALASSAEMIA MUTATION: DELETION OF 4 bp (-AAAC) IN THE 5'TRANSCRIPTIONAL SEQUENCE.
- Published in:
- British Journal of Haematology, 1991, v. 78, n. 1, p. 125, doi. 10.1111/j.1365-2141.1991.tb04396.x
- By:
- Publication type:
- Article
7
Restoration of the balanced α/β-globin gene expression in β654-thalassemia mice using combined RNAi and antisense RNA approach.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2616, doi. 10.1093/hmg/ddm218
- By:
- Publication type:
- Article
8
The Delta-Globin RNA Transcript Level in Beta-Thalassemia Carriers.
- Published in:
- Acta Haematologica, 1999, v. 102, n. 1, p. 1, doi. 10.1159/000040959
- By:
- Publication type:
- Article
9
Correction of β654-thalassaemia mice using direct intravenous injection of siRNA and antisense RNA vectors.
- Published in:
- 2011
- By:
- Publication type:
- journal article
10
Association of differential and site-dependent CpG methylation and diverse expression of DNA methyltransferases with the tissue-specific expression of human beta-globin gene in transgenic mice.
- Published in:
- 2009
- By:
- Publication type:
- journal article
11
Transgenic Mice Can Express Mutant Human Coagulation Factor IX with Higher Level of Clotting Activity.
- Published in:
- Biochemical Genetics, 2006, v. 44, n. 7/8, p. 347, doi. 10.1007/s10528-006-9034-1
- By:
- Publication type:
- Article
12
Reversal of aberrant splicing of β-thalassaemia allele (IVS-2-654 C→T) by antisense RNA expression vector in cultured human erythroid cells.
- Published in:
- British Journal of Haematology, 2000, v. 111, n. 1, p. 351, doi. 10.1046/j.1365-2141.2000.02311.x
- By:
- Publication type:
- Article
13
Hydroxyurea therapy in β-thalassaemia intermedia: improvement in haematological parameters due to enhanced β-globin synthesis.
- Published in:
- British Journal of Haematology, 1995, v. 90, n. 3, p. 557, doi. 10.1111/j.1365-2141.1995.tb05584.x
- By:
- Publication type:
- Article
14
RNA transcripts of the β-thalassaemia allele IVS-2-654 C → T: a small amount of normally processed β-globin mRNA is still produced from the mutant gene.
- Published in:
- British Journal of Haematology, 1994, v. 88, n. 3, p. 541, doi. 10.1111/j.1365-2141.1994.tb05071.x
- By:
- Publication type:
- Article
15
Long-term deregulated human hematopoiesis in goats transplanted in utero with BCR-ABL-transduced lin<sup>−</sup>CD34<sup>+</sup> cord blood cells.
- Published in:
- Cell Research, 2013, v. 23, n. 6, p. 859, doi. 10.1038/cr.2013.60
- By:
- Publication type:
- Article
16
DNA Diagnosis of Thalassemias in Chinese by a Non-Radioactive Method<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 519, doi. 10.1111/j.1749-6632.1990.tb24350.x
- By:
- Publication type:
- Article
17
Molecular Characterization of β-Thalassemia Mutations in Chinese<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 490, doi. 10.1111/j.1749-6632.1990.tb24340.x
- By:
- Publication type:
- Article