DNA damage detection and repair, and the involvement of epigenetic states.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 101, doi. 10.1002/humu.20130
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 2
Results: 18
1
2
Erratum: Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
- Published in:
- 2005
- By:
- Publication type:
- Erratum
3
A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 189, doi. 10.1002/humu.20135
- By:
- Publication type:
- Article
4
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut- forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 167, doi. 10.1002/humu.20128
- By:
- Publication type:
- Article
5
A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 223, doi. 10.1002/humu.9305
- By:
- Publication type:
- Article
6
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 118, doi. 10.1002/humu.20170
- By:
- Publication type:
- Article
7
PolyMAPr: Programs for polymorphism database mining, annotation, and functional analysis.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 110, doi. 10.1002/humu.20123
- By:
- Publication type:
- Article
8
Toward the evaluation of function in genetic variability: Characterizing human SNP frequencies and establishing BAC-transgenic mice carrying the human CYP1A1_CYP1A2 locus.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 196, doi. 10.1002/humu.20134
- By:
- Publication type:
- Article
9
Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C ( ADH1C) gene expression.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 150, doi. 10.1002/humu.20127
- By:
- Publication type:
- Article
10
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 222, doi. 10.1002/humu.9304
- By:
- Publication type:
- Article
11
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): A Belgian study.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 125, doi. 10.1002/humu.20122
- By:
- Publication type:
- Article
12
Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 207, doi. 10.1002/humu.20133
- By:
- Publication type:
- Article
13
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 135, doi. 10.1002/humu.20126
- By:
- Publication type:
- Article
14
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 222, doi. 10.1002/humu.9303
- By:
- Publication type:
- Article
15
Erratum: Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
- Published in:
- 2005
- By:
- Publication type:
- Erratum
16
Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 177, doi. 10.1002/humu.20132
- By:
- Publication type:
- Article
17
Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 142, doi. 10.1002/humu.20125
- By:
- Publication type:
- Article
18
Characterization of genotype-phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 156, doi. 10.1002/humu.20129
- By:
- Publication type:
- Article