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
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1992 AND VI 1 AND IP 2
Results: 16
1
2
Missense variation of the CFTR gene codon 507.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 165, doi. 10.1002/humu.1380010213
- By:
- Publication type:
- Article
3
Screening for mutations by expressing patient cDNA segments in E. coli: Homocystinuria due to cystathionine β-synthase deficiency.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 113, doi. 10.1002/humu.1380010206
- By:
- Publication type:
- Article
4
Masthead.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. fmi, doi. 10.1002/humu.1380010201
- Publication type:
- Article
5
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
- By:
- Publication type:
- Article
6
Prevalence of cystic fibrosis mutations in the East German population.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 109, doi. 10.1002/humu.1380010205
- By:
- Publication type:
- Article
7
Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 172, doi. 10.1002/humu.1380010216
- By:
- Publication type:
- Article
8
Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 138, doi. 10.1002/humu.1380010209
- By:
- Publication type:
- Article
9
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 154, doi. 10.1002/humu.1380010211
- By:
- Publication type:
- Article
10
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 103, doi. 10.1002/humu.1380010204
- By:
- Publication type:
- Article
11
A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 169, doi. 10.1002/humu.1380010215
- By:
- Publication type:
- Article
12
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 129, doi. 10.1002/humu.1380010208
- By:
- Publication type:
- Article
13
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
- By:
- Publication type:
- Article
14
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
- By:
- Publication type:
- Article
15
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
- By:
- Publication type:
- Article
16
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
- By:
- Publication type:
- Article