Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 11
Results: 19
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1661, doi. 10.1093/hmg/7.11.1661
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- Article
Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1681, doi. 10.1093/hmg/7.11.1681
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- Article
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1795, doi. 10.1093/hmg/7.11.1795
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- Article
CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1779, doi. 10.1093/hmg/7.11.1779
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- Article
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1753, doi. 10.1093/hmg/7.11.1753
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Recombinant human acid α-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1815, doi. 10.1093/hmg/7.11.1815
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- Article
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1761, doi. 10.1093/hmg/7.11.1761
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- Article
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1703, doi. 10.1093/hmg/7.11.1703
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- Article
Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1739, doi. 10.1093/hmg/7.11.1739
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- Article
Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells: a novel approach for the study of defects in nuclear-mitochondrial communication.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1801, doi. 10.1093/hmg/7.11.1801
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- Article
Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1787, doi. 10.1093/hmg/7.11.1787
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- Article
Adenovirus-mediated transfer of the acid α-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1695, doi. 10.1093/hmg/7.11.1695
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- Article
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1825, doi. 10.1093/hmg/7.11.1825
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- Article
The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1713, doi. 10.1093/hmg/7.11.1713
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Measured haplotype analysis of the angiotensin-I converting enzyme gene.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1745, doi. 10.1093/hmg/7.11.1745
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- Article
Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1771, doi. 10.1093/hmg/7.11.1771
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- Article
De novo expansion of intermediate alleles in spinocerebellar ataxia 7.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1809, doi. 10.1093/hmg/7.11.1809
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Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1671, doi. 10.1093/hmg/7.11.1671
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Characterization of genes encoding translation initiation factor eIF-2γ in mouse and human: sex chromosome localization, escape from X-inactivation and evolution.
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- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1725, doi. 10.1093/hmg/7.11.1725
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- Article