Human Mutation

Cover image for Human Mutation

1995

Volume 6, Issue 3

Pages fmi–fmi, 199–279

  1. Masthead

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Mutation Notes
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060301

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Mutation Notes
  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Mutation Notes
    1. Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation (pages 219–225)

      Raymonda Varon, Manfred Stuhrmann, Milan Macek Jr., Annie Kufardjieva, Dora Angelicheva, Klaus Magdorf, Albena Jordanova, Alexey Savov, Ulrich Wahn, Milan Macek, Vesselin Lalov, Tanya Ivanova, Helmut Ellemunter, Vera Vavrova, Vladimir Ferak, Hana Kayserova, André Reis and Luba Kalaydjieva

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060304

    2. Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells (pages 226–231)

      Thomas G. Jensen, Peter Bross, Brage S. Andresen, Tommy B. Lund, Thomas J. Kristensen, Uffe B. Jensen, Vibeke Winther, Steen Kølvraa, Niels Gregersen and Lars Bolund

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060305

  4. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Mutation Notes
    1. Rapid restriction fragment analysis for screening four point mutations of the Low-density lipoprotein receptor gene in French Canadians (pages 243–246)

      Marie-Claude Vohl, Patrick Couture, Sital Moorjani, Ana L. Torres, Claude Gagné, Jean-Pierre Després, Paul- J. Lupien, Fernand Labrie and Jacques Simard

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060307

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Mutation Notes
    1. Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity (pages 247–249)

      Irma Dianzani, Per M. Knappskog, Luisa de Sanctis, Sergio Giannattasio, Enrica Riva, Alberto Ponzone, Jaran Apold and Clara Camaschella

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060308

    2. Novel seventeen basepair deletion in exon 3 of the β-globin gene (pages 252–253)

      John S. Waye, Barry Eng, William H. Francombe and David H. K. Chui

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060310

    3. Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia (pages 254–256)

      Alana J. Ward, Maurice O'Kane, Ian Young, D. Paul Nicholls, Norman C. Nevin and Colin A. Graham

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060311

    4. Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy (pages 257–259)

      Sigrid Fuchs, Ulrich Kellner, Heike Wedemann and Andreas Gal

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060312

    5. A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease (pages 260–262)

      Macarena Gomez-Lira, Chiara Perusi, Nadia Brutti, M. Angela Farnetani, M. Antonietta Margollicci, Nicolò Rizzuto, Pier Franco Pignatti and Alessandro Salviati

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060313

    6. Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients (pages 263–267)

      Ryoko Koike, Osamu Onodera, Hiroyuki Tabe, Kiyotoshi Kaneko, Tadashi Miyatake, Shinichi Iwasaki, Misa Nakano, Nami Shizuma, Kunihiko Ikeguchi, Masatoyo Nishizawa, Jean Mosser, Claude-Olivier Sarde and Shoji Tsuji

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060314

    7. A 931 + 2T [RIGHTWARDS ARROW] C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI (pages 268–271)

      Francesca Zolezzi, Antonella Forlino, Monica Mottes, Maurizia Valli, Alberto Sensi, Elisa Calzolari, Pier Franco Pignatti and Giuseppe Cetta

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060315

    8. Two intronic mutations in the adrenoleukodystrophy gene (pages 272–273)

      Stephan Kemp, Marjolijn J. L. Ligtenberg, Björn M. van Geel, Peter G. Barth, Claude-Olivier Sarde, Bernard A. van Oost and Pieter A. Bolhuis

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060316

    9. A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency (pages 274–275)

      Fumie Takakubo, David R. Thorburn, Ruth M. Brown, Garry K. Brown and Hans-Henrik M. Dahl

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060317

    10. Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease) (pages 276–277)

      Seiichi Tsujino, Sara Shanske, Andrea Martinuzzi, Terry Heiman-Patterson and Salvatore DiMauro

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060318

  6. Mutation Notes

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Mutation Notes
    1. Novel missense mutation S108F in exon 4 of the CFTR gene (page 278)

      H. H. Seydewitz, H. Müller and I. Witt

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060319

    2. A frameshift mutation in codon 10 of the β-globin gene (page 278)

      Dvora Filon, Varda Oron, Yona Shneor, Deborah Rund and Ariella Oppenheim

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060320

    3. A novel mutation in the CFTR gene: I506T in exon 10 (page 279)

      Marie Desgeorges, Marie-Catherine Romey, Christine Coubes, Jacques Demaille and Mireille Claustres

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380060321

SEARCH

SEARCH BY CITATION