Frequency of recent retrotransposition events in the human factor IX gene.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 511, doi. 10.1002/humu.1134
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 6
Results: 14
1
2
Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 521, doi. 10.1002/humu.1138
- By:
- Publication type:
- Article
3
Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 523, doi. 10.1002/humu.1140
- By:
- Publication type:
- Article
4
Spectrum of ABCA4 ( ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 504, doi. 10.1002/humu.1133
- By:
- Publication type:
- Article
5
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 521, doi. 10.1002/humu.1137
- By:
- Publication type:
- Article
6
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 493, doi. 10.1002/humu.1132
- By:
- Publication type:
- Article
7
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 524, doi. 10.1002/humu.1143
- By:
- Publication type:
- Article
8
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 520, doi. 10.1002/humu.1136
- By:
- Publication type:
- Article
9
Automation in genotyping of single nucleotide polymorphisms.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 475, doi. 10.1002/humu.1131
- By:
- Publication type:
- Article
10
Identification of an additional allelic variant (XLS) of the human serotonin transporter gene (SLC6A4): -1201Cins66.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 524, doi. 10.1002/humu.1142
- By:
- Publication type:
- Article
11
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 520, doi. 10.1002/humu.1135
- By:
- Publication type:
- Article
12
Novel mutations in the emerin gene in Israeli families.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 522, doi. 10.1002/humu.1139
- By:
- Publication type:
- Article
13
Denaturing high-performance liquid chromatography: A review.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 439, doi. 10.1002/humu.1130
- By:
- Publication type:
- Article
14
Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 523, doi. 10.1002/humu.1141
- By:
- Publication type:
- Article