Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria Norikazu SakamotoTetsuya YamamotoToshikazu Hada Original Investigation Pages: 279 - 283
Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression Seija UimonenJukka S. MoilanenKari Majamaa Original Investigation Pages: 284 - 289
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling C. Le MaréchalM. AudrézetC. Férec Original Investigation Pages: 290 - 298
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis Stuart KnightTom VulliamyInderjeet Dokal Original Investigation Pages: 299 - 303
Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22 Stefan FröhlingKazuhiko NakabayashiKonstanze Döhner Original Investigation Pages: 304 - 309
Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India Priyadarshi BasuPartha MajumderNitai Bhattacharyya Original Investigation Pages: 310 - 317
Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories Jonathan WatersPaul CampbellCarolyn Campbell Original Investigation Pages: 318 - 327
Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa Corinne BareilChristian HamelMireille Claustres Original investigation Pages: 328 - 334
Linkage of prostate cancer susceptibility loci to chromosome 1 Jianfeng XuSiqun L. ZhengWilliam B. Isaacs Original investigation Pages: 335 - 345
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4) Alexander YatsenkoNoah ShroyerJames Lupski Original Investigation Pages: 346 - 355
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA Leigh SkordisMatthew DunckleyFrancesco Muntoni Short Report Pages: 356 - 357
