Works matching IS 10597794 AND DT 2002 AND VI 19 AND IP 3
Results: 22
Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP).
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- Human Mutation, 2002, v. 19, n. 3, p. 258, doi. 10.1002/humu.10052
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Mutation detection in the duplicated region of the polycystic kidney disease 1 ( PKD1) gene in PKD1-linked Australian families.
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- Human Mutation, 2002, v. 19, n. 3, p. 240, doi. 10.1002/humu.10045
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The identification and classification of 41 novel mutations in the factor VIII gene (F8C).
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- Human Mutation, 2002, v. 19, n. 3, p. 274, doi. 10.1002/humu.10056
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Erratum: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
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- Human Mutation, 2002, v. 19, n. 3, p. 311, doi. 10.1002/humu.9022
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Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
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- Human Mutation, 2002, v. 19, n. 3, p. 268, doi. 10.1002/humu.10049
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Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population.
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- Human Mutation, 2002, v. 19, n. 3, p. 307, doi. 10.1002/humu.9015
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Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.
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- Human Mutation, 2002, v. 19, n. 3, p. 309, doi. 10.1002/humu.9019
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A new strategy for mannose-binding lectin gene haplotyping.
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- Human Mutation, 2002, v. 19, n. 3, p. 296, doi. 10.1002/humu.10051
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HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.
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- Human Mutation, 2002, v. 19, n. 3, p. 225, doi. 10.1002/humu.10044
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Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
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- Human Mutation, 2002, v. 19, n. 3, p. 311, doi. 10.1002/humu.9021
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Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.
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- Human Mutation, 2002, v. 19, n. 3, p. 307, doi. 10.1002/humu.9014
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NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
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- Human Mutation, 2002, v. 19, n. 3, p. 309, doi. 10.1002/humu.9018
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The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.
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- Human Mutation, 2002, v. 19, n. 3, p. 234, doi. 10.1002/humu.10050
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- Article
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
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- Human Mutation, 2002, v. 19, n. 3, p. 209, doi. 10.1002/humu.10043
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G6PD db, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.
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- Human Mutation, 2002, v. 19, n. 3, p. 217, doi. 10.1002/humu.10036
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Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
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- Human Mutation, 2002, v. 19, n. 3, p. 310, doi. 10.1002/humu.9020
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Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase ( ALAP) gene and possible association with hypertension.
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- Human Mutation, 2002, v. 19, n. 3, p. 251, doi. 10.1002/humu.10047
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Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.
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- Human Mutation, 2002, v. 19, n. 3, p. 308, doi. 10.1002/humu.9017
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A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.
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- Human Mutation, 2002, v. 19, n. 3, p. 279, doi. 10.1002/humu.10042
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Differential occurrence of mutations causative of eye diseases in the Chinese population.
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- Human Mutation, 2002, v. 19, n. 3, p. 189, doi. 10.1002/humu.10053
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Reliability of DHPLC in mutational screening of β-globin (HBB) alleles.
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- Human Mutation, 2002, v. 19, n. 3, p. 287, doi. 10.1002/humu.10046
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Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
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- Human Mutation, 2002, v. 19, n. 3, p. 308, doi. 10.1002/humu.9016
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- Article