Association of ataxin-7 withthe proteasome subunit S4 of the 19S regulatory complex.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2821, doi. 10.1093/hmg/10.24.2821
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 24
Results: 12
1
2
A new sequence motif linkinglissencephaly, Treacher Collins and oral–facial–digitaltype 1 syndromes, microtubule dynamics and cell migration.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2813, doi. 10.1093/hmg/10.24.2813
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- Publication type:
- Article
3
A functional assay for mutationsin tumor suppressor genes caused by mismatch repair deficiency.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2737
- By:
- Publication type:
- Article
4
Molecular effects of Eya1 domainmutations causing organ defects in BOR syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2775, doi. 10.1093/hmg/10.24.2775
- By:
- Publication type:
- Article
5
Suppression of revertant fibersin mdx mice by expression of a functional dystrophin.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2745, doi. 10.1093/hmg/10.24.2745
- By:
- Publication type:
- Article
6
Aclarubicin treatment restoresSMN levels to cells derived from type I spinal muscular atrophypatients.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2841, doi. 10.1093/hmg/10.24.2841
- By:
- Publication type:
- Article
7
Mutations in the general transcriptionfactor TFIIH result in β-thalassaemiain individuals with trichothiodystrophy.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2797, doi. 10.1093/hmg/10.24.2797
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- Publication type:
- Article
8
A genome-wide scan for coronaryheart disease suggests in Indo-Mauritians a susceptibility locuson chromosome 16p13 and replicates linkage with the metabolic syndromeon 3q27.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2751, doi. 10.1093/hmg/10.24.2751
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- Publication type:
- Article
9
Human Connexin 32, a gap junctionprotein altered in the X-linked form of Charcot–Marie–Toothdisease, is directly regulated by the transcription factor SOX10.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2783, doi. 10.1093/hmg/10.24.2783
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- Publication type:
- Article
10
Long-range sequence compositionmirrors linkage disequilibrium pattern in a 1.13 Mb region of human chromosome22.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2833, doi. 10.1093/hmg/10.24.2833
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- Publication type:
- Article
11
Developmental expression of thefragile X-related 1 proteins in mouse testis: association with microtubule elements.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2803, doi. 10.1093/hmg/10.24.2803
- By:
- Publication type:
- Article
12
CRB1 has a cytoplasmic domainthat is functionally conserved between human and Drosophila.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2767
- By:
- Publication type:
- Article