Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 4
Results: 33
Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 305, doi. 10.1002/humu.28
- By:
- Publication type:
- Article
Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.39
- By:
- Publication type:
- Article
SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 327, doi. 10.1002/humu.30
- Publication type:
- Article
Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene ( GLA) in a patient affected with Fabry disease.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.41
- By:
- Publication type:
- Article
Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 271, doi. 10.1002/humu.23
- By:
- Publication type:
- Article
Human GABA<sub>B</sub> receptor 1 gene: Eight novel sequence variants.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.34
- By:
- Publication type:
- Article
Population analysis of g.2488delG and three novel polymorphisms (g.4497G>A, g.4503G>A and g.2319G>A) in the plasminogen activator inhibitor 1 (PAI-1) gene.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.45
- By:
- Publication type:
- Article
High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: Practice, problems and promise.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 296, doi. 10.1002/humu.27
- By:
- Publication type:
- Article
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 352, doi. 10.1002/humu.38
- By:
- Publication type:
- Article
Five novel natural allelic variants-951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y)-of the human CYP1A2 gene in a French Caucasian population.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.49
- By:
- Publication type:
- Article
Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene ( PEX1).
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.40
- By:
- Publication type:
- Article
A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 356, doi. 10.1002/humu.51
- By:
- Publication type:
- Article
SNPs, protein structure, and disease.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 263, doi. 10.1002/humu.22
- By:
- Publication type:
- Article
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.33
- By:
- Publication type:
- Article
Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.44
- By:
- Publication type:
- Article
Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 289, doi. 10.1002/humu.26
- By:
- Publication type:
- Article
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 351, doi. 10.1002/humu.37
- By:
- Publication type:
- Article
Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.48
- By:
- Publication type:
- Article
SNiPpets from the Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, September 8-11, 2000, Taos, New Mexico, USA.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 241, doi. 10.1002/humu.19
- By:
- Publication type:
- Article
A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 356, doi. 10.1002/humu.50
- By:
- Publication type:
- Article
Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 255, doi. 10.1002/humu.21
- By:
- Publication type:
- Article
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 348, doi. 10.1002/humu.32
- By:
- Publication type:
- Article
Identification of a polymorphism (D168N) in the XRP2 gene in Chinese.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.43
- By:
- Publication type:
- Article
Statistical multilocus methods for disequilibrium analysis in complex traits.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 285, doi. 10.1002/humu.25
- By:
- Publication type:
- Article
Haplotyping of wild type and I278T alleles of the human cystathionine β-synthase gene based on a cluster of novel SNPs in IVS12.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 350, doi. 10.1002/humu.36
- By:
- Publication type:
- Article
A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.47
- By:
- Publication type:
- Article
SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 317, doi. 10.1002/humu.29
- Publication type:
- Article
A semi-automated system for analysis and storage of SNPs.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 243, doi. 10.1002/humu.20
- By:
- Publication type:
- Article
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 348, doi. 10.1002/humu.31
- By:
- Publication type:
- Article
A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.42
- By:
- Publication type:
- Article
Characterization of publicly available SNPs in the Korean population.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 281, doi. 10.1002/humu.24
- By:
- Publication type:
- Article
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 350, doi. 10.1002/humu.35
- By:
- Publication type:
- Article
Two novel polymorphisms g.1715G>A (A496T) and g.1838G>A (3′UTR), and the g.1548G>A (E469K) variant in the intercellular adhesion molecule 1 (ICAM1) gene: Distribution in the Japanese and European American populations.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.46
- By:
- Publication type:
- Article