Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR Manfred W. KilimannAntonio PizzutiC. Thomas Caskey Original Investigations Pages: 253 - 258
Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase Ana Maria CraneLaura S. MartinFred D. Ledley Original Investigations Pages: 259 - 264
Discovery of a genetic polymorphism of human plasma protein C inhibitor (PCI): genetic survey utilizing isoelectric focusing followed by immunoblotting, immunological and biochemical characterization Toshihiro YasudaDaita NadanoKoichiro Kishi Original Investigations Pages: 265 - 269
HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome Elena BianchiSalvatore SavastaMiryam Martinetti Original Investigations Pages: 270 - 274
Huntington disease in Finland: a molecular and genealogical study Elina IkonenJaakko IgnatiusLeena Peltonen Original Investigations Pages: 275 - 280
Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect Takako TakanoTomoko KawashimaHideo Hamaguchi Original Investigations Pages: 281 - 286
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population Anna CoboDaniel GrinbergMontserrat Baiget Original Investigations Pages: 287 - 291
Pericentric inversion of chromosome 12; a three family study Annette HaagerupJens Michael Hertz Original Investigations Pages: 292 - 294
Missense mutations and the magnitude of functional deficit: the example of factor IX Steve S. SommerE. J. W. BowieCynthia D. K. Bottema Original Investigations Pages: 295 - 297
Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis Madoka SekiKiyoko TanakaMichiko Miyaki Original Investigations Pages: 298 - 300
Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus K. ZerresH. SchülerG. Schwanitz Original Investigations Pages: 301 - 304
Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients L. KádasiJ. GéczG. Romeo Original Investigations Pages: 305 - 306
Trisomy 8p: unusual origin detected by fluorescence in situ hybridization Charleen M. MooreKatrina BarnumJan C. Liang Original Investigations Pages: 307 - 310
RNA analysis from newborn screening dried blood specimen Yao-Hua ZhangEdward R. B. McCabe Original Investigations Pages: 311 - 314
The molecular basis of β-thalassemia in Turkey A. N. BaşakH. ÖzçelikB. Kirdar Original Investigations Pages: 315 - 318
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden A. J. MontandonP. M. GreenF. Giannelli Original Investigations Pages: 319 - 322
Human α-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3′ of the ζ-globin gene Luisa RomaoFaith CashAntonio Cao Original Investigations Pages: 323 - 328
Protease inhibitor (Pi) locus, fertility and twinning D. I. BoomsmaR. R. FrantsN. G. Martin Original Investigations Pages: 329 - 332
A novel sickle cell mutation of yet another origin in Africa: the Cameroon type C. LapouniéroulieO. DundaR. Krishnamoorthy Original Investigations Pages: 333 - 337
No evidence for constitutional chromosome instability in testicular cancer Ketil HeimdalSophie D. FossåPål Møller Short Communications Pages: 338 - 340
Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations Belén PérezLourdes R. DesviatMagdalena Ugarte Short Communications Pages: 341 - 342
β-Thalassemia major resulting from a compound heterozygosity for the β-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene Yutaka ChiftiHitoshi NakashimaTakashi Imamura Short Communications Pages: 343 - 346
The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18 Joachim ArnemannNigel K. SpurrRoger S. Buxton Short Communications Pages: 347 - 350
Gene frequencies of alcohol dehydrogenase2 and aldehyde dehydrogenase2 in Northwest Coast Amerindians Shi-Han ChenMin ZhangC. Ronald Scott Short Communications Pages: 351 - 352
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement Daniel R. JacobsonDale E. McFarlinJoel N. Buxbaum Short Communications Pages: 353 - 356
Highly informative dinucleotide repeat polymorphism at the D11S29 locus on chromosome 11q23 L. WarnichI. GroenewaldA. E. Retief OriginalPaper Pages: 357 - 359
A rare FokI RFLP in the human dopamine D2 receptor gene (DRD2) C. Y. LuN. GérardR. Krishnamoorthy OriginalPaper Pages: 360 - 360
A polymorphic PstI site in intron 2 of the human apolipoprotein C-II gene detected by polymerase chain reaction Bernice R. ZysowClive R. PullingerJohn P. Kane OriginalPaper Pages: 361 - 361
Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene L. WarnichM. J. KotzeA. E. Retief OriginalPaper Pages: 362 - 362
DNA-fingerprinting: a further note on mutation rates H. Ritter Letters to the Editors Pages: 363 - 364
