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Human Mutation|March 29, 2000
Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean areaJ R Blesa, J A García, E Ochoa
Human Mutation|March 29, 2000
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndromeS J Kim, E H Cook
Human Mutation|March 29, 2000
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patientsM Medlej-Hashim, M Rawashdeh, E Chouery, et al.
Human Mutation|March 29, 2000
Novel mutations of the RPGR gene in RP3 familiesI Zito, M B Gorin, C Plant, et al.
Human Mutation|February 19, 2000
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesW Wuyts, W Van Hul
Human Mutation|February 19, 2000
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)B Wirth
Human Mutation|February 19, 2000
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from RussiaT V Pogoda, I N Krakhmaleva, N A Lipatova, et al.
Human Mutation|February 19, 2000
IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics GroupO P Kristiansen, F Pociot, E P Bennett, et al.
Human Mutation|February 19, 2000
PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase geneT Sugawara, H Shimizu, N Hoshi, et al.
Human Mutation|February 17, 2001
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutationL M Allende, M A García-Pérez, A Moreno, et al.
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