Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands H. G. de VriesKlary Niezen-KoningL. P. ten Kate Original investigation Pages: 1 - 2
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt Nemat HashemPaolo BoscoV. Romano Original investigation Pages: 3 - 6
Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2 T. J. M. HulsebosEngelien H. BijleveldIan Dunham Original investigation Pages: 7 - 11
Assignment of the NTRK4 (trkE) gene to chromosome 6p21 A. ValentM. MeddebA. Bernheim Original investigation Pages: 12 - 15
Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation M. A. J. WetermanMonique WilbrinkAd Geurts van Kessel Original investigation Pages: 16 - 21
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion T. LiehrB. RautenstraussHans-Dieter Rott Original investigation Pages: 22 - 28
Turner syndrome: a study of chromosomal mosaicism Rosa FernándezJosefina MéndezE. Pásaro Original investigation Pages: 29 - 35
DNA analysis of the immunoglobulin IGHG loci in a Mandenka population from eastern Senegal: correlation with Gm haplotypes and hypotheses for the evolution of the Ig CH region Patricia DardAlicia Sanchez-MazasGérard Lefranc Original investigation Pages: 36 - 47
Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis Markus KostrzewaMaxwell S. DamianU. Müller Original investigation Pages: 48 - 50
Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients C. AyusoMaría José TrujilloBlanca García-Sandoval Original investigation Pages: 51 - 54
Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR B. PertlU. WeitgasserM. Adinolfi Original investigation Pages: 55 - 59
Complex mutational events at the HumD21S11 locus B. BrinkmannE. MeyerA. Junge Original investigation Pages: 60 - 64
Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene Dau-Ming NiuKwang-Jen HsiaoC.-H. Chen Original investigation Pages: 65 - 67
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product Dirk SchindelhauerMichael WeissA. Meindl Original investigation Pages: 68 - 76
Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation Michel HeusterspreuteIsabelle DerclayeM. Philippe Original investigation Pages: 77 - 79
Confirmation of a susceptibility locus on chromosome 13 in Australian breast cancer families Sean M. GrimmondJane M. PalmerN. K. Hayward Original investigation Pages: 80 - 85
A molecular anatomical analysis of mosaic trisomy 16 J. M. GreallyKatherine NeiswangerMark W. Steele Original investigation Pages: 86 - 90
The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus Fong-Ming ChangJudith R. KiddK. K. Kidd Original investigation Pages: 91 - 101
Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism Carmelina MagnaniLaura CremonesiMaurizio Ferrari Original investigation Pages: 102 - 108
High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862–1994 A. C. MollSaskia M. ImhofKarel E. W. P. Tan Original investigation Pages: 109 - 112
The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia M. StoffelMaria KarayiorgouMichelle M. Le Beau Rapid Communication Pages: 113 - 115
Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the “hepatic” form of carnitine palmitoyltransferase II deficiency S. YamamotoHiroki AbeHiroo Niimi Rapid communication Pages: 116 - 118
Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis Laura CremonesiSilvia CainarcaMaurizio Ferrari Rapid communication Pages: 119 - 121
Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene Eric T. HahnenB. Wirth Rapid communication Pages: 122 - 123