Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome).
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 323, doi. 10.1007/s100380070001
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- Publication type:
- Article
Works matching IS 14345161 AND DT 2000 AND VI 45 AND IP 6
Results: 13
1
2
Association of estrogen receptor β (ESR2) gene polymorphism with blood pressure.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 327, doi. 10.1007/s100380070002
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- Publication type:
- Article
3
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 331, doi. 10.1007/s100380070003
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- Publication type:
- Article
4
Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 337, doi. 10.1007/s100380070004
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- Publication type:
- Article
5
Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 342, doi. 10.1007/s100380070005
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- Publication type:
- Article
6
Association of bone mineral density with a dinucleotide repeat polymorphism at the calcitonin (CT) locus.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 346, doi. 10.1007/s100380070006
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- Publication type:
- Article
7
The BRCA2 genetic variant IVS7 + 2T → G is a mutation.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 351, doi. 10.1007/s100380070007
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- Publication type:
- Article
8
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 358, doi. 10.1007/s100380070008
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- Publication type:
- Article
9
Novel polymorphisms of prostate-specific antigen (PSA) gene associated with PSA mRNA expression in breast cancer.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 363, doi. 10.1007/s100380070009
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- Publication type:
- Article
10
A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 367, doi. 10.1007/s100380070010
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- Publication type:
- Article
11
Construction of human-rodent hybrid cells containing single transferable fragments of human chromosome 10p.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 370, doi. 10.1007/s100380070011
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- Publication type:
- Article
12
Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 374, doi. 10.1007/s100380070012
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- Publication type:
- Article
13
Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein family.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 6, p. 378, doi. 10.1007/s100380070013
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- Publication type:
- Article