Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 427, doi. 10.1002/humu.20319
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 5
Results: 15
1
2
Jagged1 ( JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 436, doi. 10.1002/humu.20310
- By:
- Publication type:
- Article
3
Aberrant splicing in the ocular albinism type 1 gene ( OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 420, doi. 10.1002/humu.20303
- By:
- Publication type:
- Article
4
Long-range PCR facilitates the identification of PMS2-specific mutations.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 490, doi. 10.1002/humu.20318
- By:
- Publication type:
- Article
5
Interaction between IL1B gene promoter polymorphisms in determining susceptibility to Helicobacter pylori associated duodenal ulcer.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 411, doi. 10.1002/humu.20299
- By:
- Publication type:
- Article
6
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 453, doi. 10.1002/humu.20313
- By:
- Publication type:
- Article
7
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 474, doi. 10.1002/humu.20320
- By:
- Publication type:
- Article
8
Optimization and evaluation of single-cell whole-genome multiple displacement amplification.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 496, doi. 10.1002/humu.20324
- By:
- Publication type:
- Article
9
The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 460, doi. 10.1002/humu.20316
- By:
- Publication type:
- Article
10
Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.
- Published in:
- 2006
- By:
- Publication type:
- Other
11
Double-strand DNA break repair with replication slippage on two strands: a novel mechanism of deletion formation.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 483, doi. 10.1002/humu.20327
- By:
- Publication type:
- Article
12
Genes and loci involved in febrile seizures and related epilepsy syndromes.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 391, doi. 10.1002/humu.20279
- By:
- Publication type:
- Article
13
Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 444, doi. 10.1002/humu.20311
- By:
- Publication type:
- Article
14
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 467, doi. 10.1002/humu.20322
- By:
- Publication type:
- Article
15
Confirmation of the origin of NISCH syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 408, doi. 10.1002/humu.20333
- By:
- Publication type:
- Article