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Human Mutation|January 1, 1992
A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reactionK R Birikh, O V Plutalov, E I Schwartz, et al.
Human Mutation|January 1, 1992
Molecular genetics of the LDL receptor gene in familial hypercholesterolemiaH H Hobbs, M S Brown, J L Goldstein
Human Mutation|January 1, 1992
Molecular analysis of neurofibromatosis type 1 mutationsX Weiming, Q Yu, L Lizhi, et al.
Human Mutation|January 1, 1992
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs diseaseS Shore, J Tomczak, E E Grebner, et al.
Human Mutation|May 20, 2003
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyPaule Bénit, Réjane Beugnot, Dominique Chretien, et al.
Human Mutation|May 20, 2003
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophySylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
Human Mutation|May 20, 2003
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneityP Jagiello, C Hammans, S Wieczorek, et al.
Human Mutation|June 20, 2003
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Brage S Andresen, Ernst Christensen, et al.
Human Mutation|June 20, 2003
Denaturing HPLC analysis of DNA deletions and insertionsLaura Cremonesi, Stefania Stenirri, Isabella Fermo, et al.
Human Mutation|June 20, 2003
Prion susceptibility and protective alleles exhibit marked geographic differencesMarta Soldevila, Francesc Calafell, Aida M Andrés, et al.
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