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Human Mutation|March 14, 2008
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Kathleen S Hruska, Mary E LaMarca, C Ronald Scott, et al.
Human Mutation|January 1, 2008
Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous beta-cateninWael M Abdel-Rahman, Juliya Kalinina, Soheir Shoman, et al.
Human Mutation|February 27, 2008
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complexSonja Stahl, Sabine Gaetzner, Katrin Voss, et al.
Human Mutation|January 1, 1994
Transcriptional regulation of gene expression: mechanisms and pathophysiologyG L Semenza
Human Mutation|January 1, 1994
Description and functional implications of a novel mutation in the sex-determining gene SRYF Poulat, S Soullier, C Gozé, et al.
Human Mutation|January 1, 1994
Infrequent mutation of the WT1 gene in 77 Wilms' TumorsM Gessler, A König, K Arden, et al.
Human Mutation|January 1, 1994
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafnessF M Reid, G A Vernham, H T Jacobs
Human Mutation|January 1, 1994
A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathyD R Jacobson, J N Buxbaum
Human Mutation|January 1, 1994
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasiaP Ritvaniemi, B P Sokolov, C J Williams, et al.
Human Mutation|January 1, 1994
Molecular genetics of metachromatic leukodystrophyV Gieselmann, J Zlotogora, A Harris, et al.
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