Works matching IS 10597794 AND DT 1992 AND VI 1 AND IP 2
Results: 16
The unstable and methylatable mutations causing the fragile X syndrome.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 91, doi. 10.1002/humu.1380010202
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- Article
Missense variation of the CFTR gene codon 507.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 165, doi. 10.1002/humu.1380010213
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- Article
Screening for mutations by expressing patient cDNA segments in E. coli: Homocystinuria due to cystathionine β-synthase deficiency.
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- Human Mutation, 1992, v. 1, n. 2, p. 113, doi. 10.1002/humu.1380010206
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- Article
Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?
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- Human Mutation, 1992, v. 1, n. 2, p. 138, doi. 10.1002/humu.1380010209
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- Article
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
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- Human Mutation, 1992, v. 1, n. 2, p. 154, doi. 10.1002/humu.1380010211
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- Article
Prevalence of cystic fibrosis mutations in the East German population.
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- Human Mutation, 1992, v. 1, n. 2, p. 109, doi. 10.1002/humu.1380010205
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- Article
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 159, doi. 10.1002/humu.1380010212
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- Article
Masthead.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. fmi, doi. 10.1002/humu.1380010201
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- Article
Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy.
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- Human Mutation, 1992, v. 1, n. 2, p. 172, doi. 10.1002/humu.1380010216
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- Article
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
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- Human Mutation, 1992, v. 1, n. 2, p. 103, doi. 10.1002/humu.1380010204
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- Article
A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin.
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- Human Mutation, 1992, v. 1, n. 2, p. 169, doi. 10.1002/humu.1380010215
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- Article
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
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- Human Mutation, 1992, v. 1, n. 2, p. 129, doi. 10.1002/humu.1380010208
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- Article
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 147, doi. 10.1002/humu.1380010210
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- Article
Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 97, doi. 10.1002/humu.1380010203
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- Article
Identification of two new missense mutations (R156C and S291L) in two ADA<sup>−</sup> SCID patients unusual for response to therapy with partial exchange transfusions.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 166, doi. 10.1002/humu.1380010214
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- Article
A novel β-globin structural mutant, Hb Brescia (β<sub>114</sub> Leu-Pro), causing a severe β-thalassemia intermedia phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 124, doi. 10.1002/humu.1380010207
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- Article