Towards a unified nomenclature describing voltage-gated calcium channel genes Philippe LoryRoel A. OphoffJoseph Nahmias Review article Pages: 149 - 150
Assignment of human genes for β2 and β4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23 S. TaviauxM. E. WilliamsP. Lory Original investigation Pages: 151 - 154
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan Mingli HsiehHui-Fang TsaiS.-Y. Li Original investigation Pages: 155 - 162
Mistyping frequency of the angiotensin-converting enzyme gene polymorphism and an improved method for its avoidance M. OdawaraAyako MatsunumaKamejiro Yamashita Original investigation Pages: 163 - 166
A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes M. R. WilsonDeborah PolanskeyBruce Budowle Original investigation Pages: 167 - 171
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly Erich RoesslerDeeann E. WardM. Muenke Original investigation Pages: 172 - 181
How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse (Peromyscus maniculatus) B. F. McAllisterI. F. Greenbaum Original investigation Pages: 182 - 188
Phenylketonuria and the peoples of Northern Ireland J. ZschockeJ. P. MalloryNorman C. Nevin Original investigation Pages: 189 - 194
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype Patrick BoomsAnne P. WithersP. N. Robinson Original investigation Pages: 195 - 200
A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden A. SillénSten JagellClaes Wadelius Original investigation Pages: 201 - 203
Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus M. ClementiRomano TenconiMario Milan Original investigation Pages: 204 - 209
Angiotensinogen and angiotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese Y.-L. KoS.-M. WangYing-Shiung Lee Original investigation Pages: 210 - 214
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis Christiane WüchnerKatja HilbertA. Winterpacht Original investigation Pages: 215 - 219
A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype M. HergersbergJaya BalakrishnanNaseem Malik Original investigation Pages: 220 - 223
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients S. M. KlauckEwald MünstermannFritz Poustka Original investigation Pages: 224 - 229
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa H. SchefferRein P. StulpMarcel F. Jonkman Original investigation Pages: 230 - 235
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes E. RaoB. WeissG. A. Rappold Original investigation Pages: 236 - 239
Evidence for balancing of KM, but not GM, alleles by heterotic advantage in South Amerinds F. L. BlackJanardan P. Pandey Original investigation Pages: 240 - 244
Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease D. HelleyClaude BesmondJacques Elion Original investigation Pages: 245 - 248
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene Mara GiordanoCristina MarchettiP. Momigliano Richiardi Original investigation Pages: 249 - 255
Deletions in Xq26.3–q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern D. J. WolffKaren M. GustashawHuntington F. Willard Original investigation Pages: 256 - 262
Identification of a four-base deletion (delTCAT296–299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression P. VrekenR. MeinsmaA. B. P. Van Kuilenburg Original investigation Pages: 263 - 265
Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics A. V. PeetersLuc F. Van GaalMaritha J. Kotze Original investigation Pages: 266 - 270
Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization S. MüllerM. RocchiJ. Wienberg Original investigation Pages: 271 - 278
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities Marie DesgeorgesAndré MégarbanéM. Claustres Original investigation Pages: 279 - 283
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis A. VerripsGerry C. H. Steenbergen-SpanjersLambert P. W. J. van den Heuvel Original investigation Pages: 284 - 286
Evidence of a third locus in X-linked recessive spastic paraplegia R. SteinmüllerA. Lantigua-CruzU. Müller Letter to the editors Pages: 287 - 289