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Human Mutation|February 22, 2002
The identification and classification of 41 novel mutations in the factor VIII gene (F8C)J A Cutler, M J Mitchell, M P Smith, et al.
Human Mutation|February 22, 2002
A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1Yaping Wang, Waltraut Friedl, Marlies Sengteller, et al.
Human Mutation|February 22, 2002
Reliability of DHPLC in mutational screening of beta-globin (HBB) allelesAlessia Colosimo, Valentina Guida, Alessandro De Luca, et al.
Human Mutation|February 22, 2002
A new strategy for mannose-binding lectin gene haplotypingAngelica Beate Winter Boldt, Maria Luiza Petzl-Erler
Human Mutation|March 17, 2006
Novel JARID1C/SMCX mutations in patients with X-linked mental retardationAndreas Tzschach, Steffen Lenzner, Bettina Moser, et al.
Human Mutation|April 19, 2006
The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian populationPin Yue, Maurizio Averna, Xiaobo Lin, et al.
Human Mutation|January 15, 1999
Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff diseaseK Furihata, A Drousiotou, Y Hara, et al.
Human Mutation|January 15, 1999
Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneityJ Berger, M Gmach, U Mayr, et al.
Human Mutation|January 24, 2006
Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disordersPeng Xiao, Pengyuan Liu, James L Weber, et al.
Human Mutation|December 12, 2007
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomasRoberta Sestini, Costanza Bacci, Aldesia Provenzano, et al.
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