Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 2
Results: 19
Masthead.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. fmi, doi. 10.1002/humu.1380020201
- Publication type:
- Article
Screening for molecular pathologies in Lesch-Nyhan syndrome.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 127, doi. 10.1002/humu.1380020212
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- Article
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 85, doi. 10.1002/humu.1380020205
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- Publication type:
- Article
Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 145, doi. 10.1002/humu.1380020216
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- Publication type:
- Article
Detection of K- ras mutation in sputum by mutant-allele-specific amplification (MASA).
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 112, doi. 10.1002/humu.1380020209
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- Publication type:
- Article
A method to isolate DNA from small archival tissue samples for p53 gene analysis.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 123, doi. 10.1002/humu.1380020211
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- Publication type:
- Article
Advances in DNA sequencing technology.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 82, doi. 10.1002/humu.1380020204
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- Article
Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 141, doi. 10.1002/humu.1380020215
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- Publication type:
- Article
Fabry disease: Detection of gene rearrangements in the human α-Galactosidase A Gene by Multiplex PCR Amplification.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 108, doi. 10.1002/humu.1380020208
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- Publication type:
- Article
Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 155, doi. 10.1002/humu.1380020219
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- Publication type:
- Article
Detection of polymorphisms using thermal cycling with a single oligonucleotide on a DNA sequencing gel.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 118, doi. 10.1002/humu.1380020210
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- Publication type:
- Article
Second International Symposium on the Marfan Syndrome, November 7-9, 1992, San Francisco, CA.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 80, doi. 10.1002/humu.1380020203
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- Publication type:
- Article
Hunter syndrome: Gene deletions and rearrangements.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 138, doi. 10.1002/humu.1380020214
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- Publication type:
- Article
Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 103, doi. 10.1002/humu.1380020207
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- Publication type:
- Article
The spectrum of β-thalassemia mutations in Azerbaijan.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 152, doi. 10.1002/humu.1380020218
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- Publication type:
- Article
Editorial.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 79, doi. 10.1002/humu.1380020202
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- Publication type:
- Article
Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 131, doi. 10.1002/humu.1380020213
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- Publication type:
- Article
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 94, doi. 10.1002/humu.1380020206
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- Publication type:
- Article
An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 148, doi. 10.1002/humu.1380020217
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- Publication type:
- Article