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Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have recently identified the gene encoding for a bifunctional enzyme, UDP‐N‐acetylglucosamine 2 epimerase/N‐acetylmannosamine kinase (GNE),...
Partially denaturing high‐performance liquid chromatography has emerged as the most sensitive physical mutation scanning method. However, there are a few reports of mutations missed or only detectable at unique temperatures. The combined use of ion‐pair reversed‐phase high‐performance...
The original article to which this Erratum refers was published in Human Mutation 20:405–406 Human Mutation (2002) 20(5) 405–406 The authors regret that there was an error in Table 2 on Page 4 of the original article. In patient DS, the nucleotide change 16838C>T is not correct. It should be...
The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood‐onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients...
Mutations in the connexin 26 gene (GJB2) are responsible for the major part of nonsyndromic autosomal recessive or apparently sporadic prelingual deafness in Caucasians (DFNB1). We screened 228 German hearing‐impaired persons for mutations in the GJB2 gene by sequence analysis. Homozygous or...
We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR‐based techniques, single‐stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found...
Splice mutations in the p53 gene (TP53) are described as rare events that occur at a frequency of less than 1%. Using a functional assay based on the transcriptional activity of p53 and using RNA as starting material, we describe here a p53 splice mutation that could not be detected by genomic...
A proportion of melanoma‐prone individuals in both familial and non‐familial contexts has been shown to carry inactivating mutations in either CDKN2A or, rarely, CDK4. CDKN2A is a complex locus that encodes two unrelated proteins from alternately spliced transcripts that are read in different...
We studied by multiplex amplification and single‐run electrophoretic analysis 10 microsatellite loci, composed of nine tetranucleotide‐repeats (D1S1612, D3S2387, D4S2431, D5S2501, D10S1237, D15S657, D16S2622, D18S1270, and IFNAR‐ALU) and one trinucleotide repeat (D2S1353). After elimination...
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