Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 6
Results: 24
Determination of β2-adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assay.
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- Human Mutation, 2002, v. 20, n. 6, p. 479, doi. 10.1002/humu.9091
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BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.
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- Human Mutation, 2002, v. 20, n. 6, p. 474, doi. 10.1002/humu.9083
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Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
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- Human Mutation, 2002, v. 20, n. 6, p. 452, doi. 10.1002/humu.10144
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DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
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- Human Mutation, 2002, v. 20, n. 6, p. 481, doi. 10.1002/humu.9095
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Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
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- Human Mutation, 2002, v. 20, n. 6, p. 477, doi. 10.1002/humu.9088
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GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).
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- Human Mutation, 2002, v. 20, n. 6, p. 478, doi. 10.1002/humu.9090
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BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
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- Human Mutation, 2002, v. 20, n. 6, p. 474, doi. 10.1002/humu.9084
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Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes.
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- Human Mutation, 2002, v. 20, n. 6, p. 463, doi. 10.1002/humu.10143
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Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
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- Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9094
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- Article
Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.
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- Human Mutation, 2002, v. 20, n. 6, p. 413, doi. 10.1002/humu.10154
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Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome.
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- Human Mutation, 2002, v. 20, n. 6, p. 460, doi. 10.1002/humu.10136
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A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
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- Human Mutation, 2002, v. 20, n. 6, p. 477, doi. 10.1002/humu.9087
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- Article
BRCA1 and BRCA2 in Indian breast cancer patients.
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- Human Mutation, 2002, v. 20, n. 6, p. 473, doi. 10.1002/humu.9082
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- Article
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations.
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- Human Mutation, 2002, v. 20, n. 6, p. 447, doi. 10.1002/humu.10142
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Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
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- Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9093
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- Article
Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.
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- Human Mutation, 2002, v. 20, n. 6, p. 476, doi. 10.1002/humu.9086
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- Article
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
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- Human Mutation, 2002, v. 20, n. 6, p. 482, doi. 10.1002/humu.9097
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- Article
SLC26A3 mutations in congenital chloride diarrhea.
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- Human Mutation, 2002, v. 20, n. 6, p. 425, doi. 10.1002/humu.10139
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- Article
D90A- SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
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- Human Mutation, 2002, v. 20, n. 6, p. 473, doi. 10.1002/humu.9081
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- Article
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
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- Human Mutation, 2002, v. 20, n. 6, p. 479, doi. 10.1002/humu.9092
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- Article
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.
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- Human Mutation, 2002, v. 20, n. 6, p. 481, doi. 10.1002/humu.9096
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- Article
A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls.
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- Human Mutation, 2002, v. 20, n. 6, p. 478, doi. 10.1002/humu.9089
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Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
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- Human Mutation, 2002, v. 20, n. 6, p. 439, doi. 10.1002/humu.10141
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- Article
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
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- Human Mutation, 2002, v. 20, n. 6, p. 475, doi. 10.1002/humu.9085
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- Article