1. Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family

   • Boris P. Sokolov
   • Alexander N. Prytkov
   • Darwin J. Prockop

   Original Investigations Pages: 125 - 129

2. Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages

   • Luigi D. Notarangelo
   • Ornella Parolini
   • Alberto G. Ugazio

   Original Investigations Pages: 130 - 134

3. Identification of twelve new RFLP-markers on chromosome 22q11-qter

   • Elisabeth Carlbom
   • Noriaki Sugawa
   • Magnus Nordenskjöld

   Original Investigations Pages: 135 - 138

4. Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

   • S. Marzuki
   • A. S. Noer
   • E. Byrne

   Original Investigations Pages: 139 - 145

5. Inheritance of ribosomal gene activity and level of DNA methylation of individual gene clusters in a three generation family

   • A. de Capoa
   • C. Aleixandre
   • D. A. Miller

   Original Investigations Pages: 146 - 152

6. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene

   • Danièle Hentzen
   • Anna Pelet
   • Arnold Munnich

   Original Investigations Pages: 153 - 156

7. Multipoint linkage analysis in X-linked Alport syndrome

   • Jens Michael Hertz
   • Torben A. Kruse
   • Edwin S. Spencer

   Original Investigations Pages: 157 - 161

8. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

   • A. A. B. Bergen
   • C. Samanns
   • E. M. Bleeker-Wagemakers

   Original Investigations Pages: 162 - 166

9. Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21

   • Jean-Louis Blouin
   • Alain Aurias
   • Pierre-Marie Sinet

   Original Investigations Pages: 167 - 174

10. Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis

    • K. M. Summers
    • K. S. Tam
    • L. W. Powell

    Original Investigations Pages: 175 - 178

11. Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies

    • Mireille Claustres
    • Sylvie Tuffery
    • Jacques Demaille

    Original Investigations Pages: 179 - 184

12. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1

    • Xavier Estivill
    • Conxi Lázaro
    • Anna Ravella

    Original Investigations Pages: 185 - 188

13. High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers

    • David F. Barker
    • Pamela R. Fain
    • Curtis L. Atkin

    Original Investigations Pages: 189 - 194

14. Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy

    • Katharine M. D. Bushby
    • Nicola J. Cleghorn
    • Shomi S. Bhattacharya

    Original Investigations Pages: 195 - 199

15. Human NK-2 receptor gene maps to chromosome region 10q11–21

    • John E. N. Morten
    • Brian Hopkins
    • Alexander Graham

    Original Investigations Pages: 200 - 203

16. Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas

    • Frans Graadt van Roggen
    • Deneys R. van der Westhuyzen
    • Gerhard A. Coetzee

    Original Investigations Pages: 204 - 208

17. Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus

    • Inderjeet Dokal
    • Deirdre Lord
    • Timothy Cox

    Original Investigations Pages: 209 - 214

18. The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

    • Jessica E. Hoogendijk
    • Gerard W. Hensels
    • Pieter A. Bolhuis

    Original Investigations Pages: 215 - 218

19. Genomic structure and expression of human guanosine monophosphate reductase

    • Tatsuro Kondoh
    • Hitoshi Kanno
    • Akira Yoshida

    Original Investigations Pages: 219 - 224

20. Identification of common variant alleles of the human guanosine monophosphate reductase gene

    • Tatsuro Kondoh
    • Hitoshi Kanno
    • Akira Yoshida

    Short Communications Pages: 225 - 227

21. Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28

    • V. Biancalana
    • B. Le Marec
    • A. Hanauer

    Short Communications Pages: 228 - 230

22. An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema

    • Z. Siddique
    • A. R. McPhaden
    • K. Whaley

    Short Communications Pages: 231 - 232

23. A specific point mutation in the mitochondrial genome of Caucasians with MELAS

    • C. Enter
    • J. Müller-Höcker
    • K. -D. Gerbitz

    Short Communications Pages: 233 - 236

24. Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS

    • Luigi D. Notarangelo
    • Ornella Parolini
    • Alberto G. Ugazio

    Clinical Case Report Pages: 237 - 241

25. Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D

    • Jay H. Robbins

    Letter to the Editors Pages: 242 - 242

26. Editorial help

    Legacy Pages: 243 - 243

27. Announcements

    Announcement Pages: 244 - 244