Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations and polymorphisms^†

• Pages: 557-568
• First Published: 25 April 2003

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH^†

• Pages: 569-576
• First Published: 24 April 2003

Human Gene Mutation Database (HGMD^®): 2003 update^†

• Pages: 577-581
• First Published: 24 April 2003

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy^†

• Pages: 582-586
• First Published: 24 April 2003

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide^†

• Pages: 587-592
• First Published: 24 April 2003

Mutation analysis in patients with N-acetylglutamate synthase deficiency^†

• Pages: 593-597
• First Published: 24 April 2003

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations^†

• Pages: 598-607
• First Published: 24 April 2003

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy^†

• Pages: 608-614
• First Published: 24 April 2003

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy^†

• Pages: 615-621
• First Published: 24 April 2003

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay^†

• Pages: 622-629
• First Published: 24 April 2003

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity^†

• Pages: 630-635
• First Published: 24 April 2003

An ABCA4 genomic deletion in patients with Stargardt disease^†

• Pages: 636-644
• First Published: 25 April 2003

A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7^†

• Pages: 645-648
• First Published: 24 April 2003

Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency^†

• Page: 649
• First Published: 25 April 2003

• Page: 650
• First Published: 25 April 2003

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein^†‡

• Page: 651
• First Published: 23 September 2003

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease^†‡

• Pages: 651-652
• First Published: 23 September 2003

Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations^†‡

• Page: 652
• First Published: 23 September 2003

Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients^†‡

• Pages: 652-653
• First Published: 23 September 2003

Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population^†‡

• Page: 653
• First Published: 23 September 2003

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family^†‡

• Page: 654
• First Published: 23 September 2003

A Novel PTPN11 mutation in LEOPARD syndrome^†‡

• Page: 654
• First Published: 23 September 2003

Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population^†‡

• Page: 655
• First Published: 23 September 2003

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations^†‡

• Pages: 655-656
• First Published: 23 September 2003

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy^†‡

• Page: 656
• First Published: 23 September 2003