Genetic testing and risk assessment for spinal muscular atrophy (SMA) Shuji OginoRobert B. Wilson Review Article Pages: 477 - 500
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia Sabine AmsellemDorothée BriffautPascale Benlian Original Investigation Pages: 501 - 510
A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes Xiayi KeSimon N. ThomasAndrew Collins Original Investigation Pages: 511 - 520
Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation Mellissa M. DeMilleJudith R. KiddKenneth K. Kidd Original Investigation Pages: 521 - 537
Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload Anne C. McCuneLayla N. Al-JaderMark Worwood Original Investigation Pages: 538 - 543
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) L. van den Heuvel K. Assink L. Monnens Original Investigation Pages: 544 - 547
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome Kathy KingFrances A. FlinterPeter M. Green Original Investigation Pages: 548 - 554
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning Dharini JeganathanMargaret F. FoxSue Povey Original Investigation Pages: 555 - 565
Markers that discriminate between European and African ancestry show limited variation within Africa Heather E. Collins-SchrammRick A. KittlesMichael F. Seldin Short Report Pages: 566 - 569
Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren Kazue EndoHisako YanagiShigeo Tomura Short Report Pages: 570 - 572
Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error? Jianfeng XuAubrey TurnerDeborah A. Meyers Food for Thought Pages: 573 - 574
Evidence against the long-term persistence of fetal DNA in maternal plasma after pregnancy Chanda N. Johnson-HopsonCarol M. Artlett Letter to the Editors Pages: 575 - 575
Presence of fetal DNA in maternal plasma decades after pregnancy: further comments Pietro InvernizziPier BattezzatiGiuseppe Simoni Letter to the Editors Pages: 576 - 576
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample Stephanie M. FullertonAndrew G. ClarkDeborah A. Nickerson Erratum Pages: 577 - 578
Jan Klein, Naoyuki Takahata: Where do we come from? The molecular evidence for human descent Trefor Jenkins Book Review Pages: 579 - 581