Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 538, doi. 10.1007/s00439-002-0824-1
- By:
- Publication type:
- Article
Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 6
Results: 16
1
2
Bioinformatics – from genomes to drugs (2 volumes): Thomas Lenauger (editor), Wiley-VCH, New York, ISBN 3-527-29988-2, Hardcover (2 vols), £170.00.
- Published in:
- 2002
- By:
- Publication type:
- Book Review
3
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 501, doi. 10.1007/s00439-002-0813-4
- By:
- Publication type:
- Article
4
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 548, doi. 10.1007/s00439-002-0830-3
- By:
- Publication type:
- Article
5
Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error?
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 573, doi. 10.1007/s00439-002-0819-y
- By:
- Publication type:
- Article
6
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample.
- Published in:
- 2002
- By:
- Publication type:
- Erratum
7
Presence of fetal DNA in maternal plasma decades after pregnancy: further comments.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 576, doi. 10.1007/s00439-002-0797-0
- By:
- Publication type:
- Article
8
Markers that discriminate between European and African ancestry show limited variation within Africa.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 566, doi. 10.1007/s00439-002-0818-z
- By:
- Publication type:
- Article
9
A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 511, doi. 10.1007/s00439-002-0822-3
- By:
- Publication type:
- Article
10
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 477, doi. 10.1007/s00439-002-0828-x
- By:
- Publication type:
- Article
11
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 544, doi. 10.1007/s00439-002-0820-5
- By:
- Publication type:
- Article
12
Jan Klein, Naoyuki Takahata: Where do we come from? The molecular evidence for human descent: Springer, Berlin Heidelberg New York, 2002, 462 pp (ISBN 3-540-42564-0) EUR 44.95, GBP 31.50, US$ 49.95.
- Published in:
- 2002
- By:
- Publication type:
- Book Review
13
Evidence against the long-term persistence of fetal DNA in maternal plasma after pregnancy.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 575, doi. 10.1007/s00439-002-0796-1
- By:
- Publication type:
- Article
14
Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 521, doi. 10.1007/s00439-002-0809-0
- By:
- Publication type:
- Article
15
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 555, doi. 10.1007/s00439-002-0821-4
- By:
- Publication type:
- Article
16
Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 570, doi. 10.1007/s00439-002-0825-0
- By:
- Publication type:
- Article