Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 416, doi. 10.1007/s004390100573
- By:
- Publication type:
- Article
Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 4
Results: 12
1
2
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 402, doi. 10.1007/s004390100598
- By:
- Publication type:
- Article
3
Genetic predisposition to ventricular septal defect in Down syndrome.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 463, doi. 10.1007/s004390100586
- Publication type:
- Article
4
Physical activity modulates the combined effect of a common variant of the lipoprotein lipase gene and smoking on serum triglyceride levels and high-density lipoprotein cholesterol in men.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 385, doi. 10.1007/s004390100584
- By:
- Publication type:
- Article
5
Genetic risk factors of venous thrombosis.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 369, doi. 10.1007/s004390100593
- By:
- Publication type:
- Article
6
Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 452, doi. 10.1007/s004390100590
- By:
- Publication type:
- Article
7
Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 408, doi. 10.1007/s004390100565
- By:
- Publication type:
- Article
8
Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 393, doi. 10.1007/s004390100599
- By:
- Publication type:
- Article
9
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 421, doi. 10.1007/s004390100592
- By:
- Publication type:
- Article
10
Helmut Schenkel-Brunner: Human blood groups: chemical and biological basis of antigen, 2nd edn., Springer-Verlag, Wien New York. ISBN 3-211-83471-0. DM 198.–, US$ 99.0. Hardcover, 637 pages.
- Published in:
- 2001
- By:
- Publication type:
- Book Review
11
Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 440, doi. 10.1007/s004390100588
- By:
- Publication type:
- Article
12
A genome-wide survey of human thioredoxin and glutaredoxin family pseudogenes.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 429, doi. 10.1007/s004390100597
- By:
- Publication type:
- Article