Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 6
Results: 15
Eight novel polymorphisms in the dystrophin gene of african-americans: The rate of polymorphism is high.
- Published in:
- Human Mutation, 1993, v. 2, n. 6, p. 485, doi. 10.1002/humu.1380020610
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- Article
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene.
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- Human Mutation, 1993, v. 2, n. 6, p. 435, doi. 10.1002/humu.1380020603
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- Article
A G to C transversion in codon 258 of the α-subunit of β-hexosaminidase a in an infant Tay-Sachs disease patient.
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- Human Mutation, 1993, v. 2, n. 6, p. 496, doi. 10.1002/humu.1380020614
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- Article
Alu repeats in the human factor IX gene: The rate of polymorphism is not substantially elevated.
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- Human Mutation, 1993, v. 2, n. 6, p. 468, doi. 10.1002/humu.1380020607
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- Article
Mutations of the APC adenomatous polyposis coli) gene.
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- Human Mutation, 1993, v. 2, n. 6, p. 425, doi. 10.1002/humu.1380020602
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- Article
Sequencing of the Alzheimer's APP gene Dutch variant (APP-D).
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- Human Mutation, 1993, v. 2, n. 6, p. 495, doi. 10.1002/humu.1380020613
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- Article
Familial genetic defect in a case of leukocyte adhesion deficiency.
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- Human Mutation, 1993, v. 2, n. 6, p. 458, doi. 10.1002/humu.1380020606
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- Article
Masthead.
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- Human Mutation, 1993, v. 2, n. 6, p. fmi, doi. 10.1002/humu.1380020601
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- Article
Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy.
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- Human Mutation, 1993, v. 2, n. 6, p. 492, doi. 10.1002/humu.1380020612
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- Article
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.
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- Human Mutation, 1993, v. 2, n. 6, p. 446, doi. 10.1002/humu.1380020605
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- Article
Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR.
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- Human Mutation, 1993, v. 2, n. 6, p. 489, doi. 10.1002/humu.1380020611
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- Article
Simple, rapid, and accurate determination of deletion mutations by automated dna sequencing of heteroduplex fragments of the adenomatous polyposis coli ( APC) gene generated by PCR amplification.
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- Human Mutation, 1993, v. 2, n. 6, p. 478, doi. 10.1002/humu.1380020609
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- Article
Molecular analysis of a patient with hydrops fetalis caused by β-glucuronidase deficiency, and evidence for additional pseudogenes.
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- Human Mutation, 1993, v. 2, n. 6, p. 443, doi. 10.1002/humu.1380020604
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- Article
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
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- Human Mutation, 1993, v. 2, n. 6, p. 473, doi. 10.1002/humu.1380020608
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Announcement.
- Published in:
- Human Mutation, 1993, v. 2, n. 6, p. 498, doi. 10.1002/humu.1380020615
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- Article