Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 4
Results: 10
Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR).
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 147, doi. 10.1007/s100380200018
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Ethnic variation in the HER-2 codon 655 genetic polymorphism previously associated with breast cancer.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 172, doi. 10.1007/s100380200019
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Molecular and structural studies of the GM2 gangliosidosis 0 variant.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 176, doi. 10.1007/s100380200020
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Relation between angiotensin-converting enzyme II genotype and atrial fibrillation in Japanese patients with hypertrophic cardiomyopathy.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 184, doi. 10.1007/s100380200021
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A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 190, doi. 10.1007/s100380200022
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A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 196, doi. 10.1007/s100380200023
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Rates of nucleotide substitution, mutation at a locus, and the "beanbag" gene number in man.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 202, doi. 10.1007/s100380200024
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Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 205, doi. 10.1007/s100380200025
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Twenty single-nucleotide polymorphisms in four genes encoding cardiac ion channels.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 208, doi. 10.1007/s100380200026
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Characterization of a VNTR polymorphism in the coding region of the CEL gene.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 213, doi. 10.1007/s100380200027
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