Characterization of the three genotypes of low Km aldehyde dehydrogenase in a Japanese population Tatsuya TakeshitaKanehisa MorimotoJun-ichi Furuyama Original Investigation Pages: 217 - 223
Genetically polymorphic α-l-fucosidase (FUCA1) isozymes detected in blood plasma Haruo TakeshitaToshihiro YasudaKoichiro Kishi Original Investigation Pages: 224 - 230
Loss of heterozygosity studies in tumors from families with breast-ovarian cancer syndrome Moraima Zelada-HedmanMarta TorroellaAnnika Lindblom Original Investigation Pages: 231 - 234
Tyrosinemia type 1 — complex splicing defects and a missense mutation in the fumarylacetoacetase gene Helge RootweltTom KristensenEli Anne Kvittingen Original Investigation Pages: 235 - 239
ICF syndrome: a new case and review of the literature Dominique F. C. M. SmeetsUte MoogGuus Hamers Original Investigation Pages: 240 - 246
Identification of trisomy in Macaca fascicularis by fluorescence in situ hybridization with a human chromosome 13 DNA library O. G. WardR. L. MillerJ. Meyne Original Investigation Pages: 247 - 251
Population Genetic Characteristics of the D1S80 locus in seven human populations Ranjan DekaSusan DeCrooRanajit Chakraborty Original Investigation Pages: 252 - 258
A long range restriction map spanning the myxoid liposarcoma breakpoint in the q13-14 region of human chromosome 12 Anne ForusPatrick F. J. KoolsOla Myklebost Original Investigation Pages: 259 - 264
Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation Roelof-Jan OostraPieter A. BolhuisElisabeth M. Bleeker-Wagemakers Original Investigation Pages: 265 - 270
No evidence for linkage between familial hypertriglyceridemia and apolipoprotein B, apolipoprotein C-III or lipoprotein lipase genes Tiina HeliöAarno PalotieKimmo Kontula Original Investigation Pages: 271 - 278
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection Frida E. KleimanRaquel Dodelson de KremerCarlos E. Argaraña Original Investigation Pages: 279 - 282
Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa Carlos ReigJaume AntichMiguel Carballo Original Investigation Pages: 283 - 286
Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications Patricia Aguilar-MartinezMarie-Catherine RomeyMireille Claustres Original Investigation Pages: 287 - 290
CFTR mutations in Chilean cystic fibrosis patients Juan RiosOmar OrellanaNora Riveros Original Investigation Pages: 291 - 294
Aneuploidy and ageing: sex chromosome exclusion into micronuclei Martina GuttenbachRenate SchakowskiMichael Schmid Short Communication Pages: 295 - 298
Germ line origins of de novo mutations in hemophilia B families Arthur R. ThompsonShi-Han Chen Short Communication Pages: 299 - 302
Chromosomal localization of the human histone H2A.X gene to 11q23.2-q23.3 by fluorescence in situ hybridization Vessela S. IvanovaDrazen ZimonjicWilliam M. Bonner Short Communication Pages: 303 - 306
DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles Uta Lichter-KoneckiMagdalena SchlotterDavid S. Konecki Short Communication Pages: 307 - 310
Skipping of multiple CFTR exons is not a result of single exon omissions Anke RickersFrauke RininslandJochen Reiss Short Communication Pages: 311 - 313
Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site Renu TutejaNarendra TutejaFrancisco E. Baralle OriginalPaper Pages: 314 - 315
A polymorphic poly-A sequence in the 5′ region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11β-hydroxylase genes defects F. ClotM. JagerE. Mornet OriginalPaper Pages: 316 - 317
