Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 25
Results: 13
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3209, doi. 10.1093/hmg/11.25.3209
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- Article
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3115, doi. 10.1093/hmg/11.25.3115
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- Article
SLUG (SNAI2) deletions in patients with Waardenburg disease.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3231, doi. 10.1093/hmg/11.25.3231
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- Article
Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3191, doi. 10.1093/hmg/11.25.3191
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- Article
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3237, doi. 10.1093/hmg/11.25.3237
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- Article
The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3135, doi. 10.1093/hmg/11.25.3135
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- Article
Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3157, doi. 10.1093/hmg/11.25.3157
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- Article
Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3179, doi. 10.1093/hmg/11.25.3179
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Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3125, doi. 10.1093/hmg/11.25.3125
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Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3167, doi. 10.1093/hmg/11.25.3167
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Structure–function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3199, doi. 10.1093/hmg/11.25.3199
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- Article
Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3145, doi. 10.1093/hmg/11.25.3145
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- Publication type:
- Article
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3221, doi. 10.1093/hmg/11.25.3221
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- Article