Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 9
Results: 10
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 905, doi. 10.1093/hmg/ddh112
- By:
- Publication type:
- Article
Polymorphisms at positions -22 and -348 in the promoter of the BAT1 gene affect transcription and the binding of nuclear factors.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 967, doi. 10.1093/hmg/ddh113
- By:
- Publication type:
- Article
Genetic dissection of myocilin glaucoma.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 991, doi. 10.1093/hmg/ddh120
- By:
- Publication type:
- Article
Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 983, doi. 10.1093/hmg/ddh111
- By:
- Publication type:
- Article
Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 945, doi. 10.1093/hmg/ddh110
- By:
- Publication type:
- Article
Mitochondrial transcription factor A regulates mtDNA copy number in mammals.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 935, doi. 10.1093/hmg/ddh109
- By:
- Publication type:
- Article
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 923, doi. 10.1093/hmg/ddh108
- By:
- Publication type:
- Article
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 975, doi. 10.1093/hmg/ddh106
- By:
- Publication type:
- Article
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 893, doi. 10.1093/hmg/ddh105
- By:
- Publication type:
- Article
A mouse model for α-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 955, doi. 10.1093/hmg/ddh107
- By:
- Publication type:
- Article