Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 253, doi. 10.1002/humu.1185
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 3
Results: 14
1
2
APECED mutations in the autoimmune regulator (AIRE) gene.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 205, doi. 10.1002/humu.1176
- By:
- Publication type:
- Article
3
Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 251, doi. 10.1002/humu.1181
- By:
- Publication type:
- Article
4
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 169, doi. 10.1002/humu.1174
- By:
- Publication type:
- Article
5
Mutation detection in the alpha-1 antitrypsin gene ( PI) using denaturing gradient gel electrophoresis.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 243, doi. 10.1002/humu.1180
- By:
- Publication type:
- Article
6
High incidence of N and K- Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 212, doi. 10.1002/humu.1177
- By:
- Publication type:
- Article
7
Molecular basis of phenylketonuria in Cuba.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 252, doi. 10.1002/humu.1183
- By:
- Publication type:
- Article
8
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 225, doi. 10.1002/humu.1178
- By:
- Publication type:
- Article
9
A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 254, doi. 10.1002/humu.1187
- By:
- Publication type:
- Article
10
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 252, doi. 10.1002/humu.1184
- By:
- Publication type:
- Article
11
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 251, doi. 10.1002/humu.1182
- By:
- Publication type:
- Article
12
RNase cleavage-based methods for mutation/SNP detection, past and present.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 190, doi. 10.1002/humu.1175
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- Publication type:
- Article
13
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 253, doi. 10.1002/humu.1186
- By:
- Publication type:
- Article
14
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 233, doi. 10.1002/humu.1179
- By:
- Publication type:
- Article