Clinical Genetics

Cover image for Clinical Genetics

September 1998

Volume 54, Issue 3

Pages 169–258

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    7. Erratum
  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    7. Erratum
  3. Original Article

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    7. Erratum
    1. Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease (pages 179–184)

      Deborah Elstein, Ayala Abrahamov and Ari Zimran

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04281.x

    2. Severe classical congenital muscular dystrophy and merosin expression (pages 193–198)

      Jiri Vajsar, David Chitayat, Laurence E. Becker, Michael Ho, Bruria Ben-Zeev and Venita Jay

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04283.x

    3. Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome (pages 199–202)

      Takeo Kubota, Akihiro Sakurai, Kazuo Arakawa, Mitsunobu Shirnazu, Keiko Wakui, Kenichi Furihata and Yoshimitsu Fukushirna

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04284.x

    4. Molecular basis of cystic fibrosis in the Republic of Macedonia (pages 203–209)

      L. Petreska, S. Koceva, D. Plaseska, M. Chernick, A. Gordova-Muratovska, S. Fustic, R. Nestorov and GD Efremov

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04285.x

    5. Prevalence of homozygosity for the deleted alleles of glutathione S-transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groutx from Brazil: relevance to enviromental carcinogenesis? (pages 210–214)

      Valder R. Anuda, Carlos E. Grignolli, Marilda S. Gonqalves, Manoel C. Soares, Raimundo Menezes, Sara TO Saad and Fernando F. Costa

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04286.x

  4. Short Report

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    7. Erratum
    1. A family with three germline mutations in BRCAl and BRCA2 (pages 215–218)

      Alexander Liede, Kelly Metcalfe, Kenneth Offit, Karen Brown, Shari Miller, Steven A. Narod and Roxana Moslehi

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04287.x

    2. A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil (pages 219–223)

      Têmis Maria Félix, Júlio César Loguercio Leite, Sharbel Weidner Maluf and Janice Carneiro Coelho

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04288.x

    3. Three novel PROC gene lesions causing protein C deficiency (pages 231–233)

      PJ Hallam, P. Mannucci, A. Tripodi, D. Bevan, B. Lawsen, L. Tengborn, A. Wacey and DN Coopel

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04290.x

    4. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis (pages 234–238)

      Nan Zhong, , E. Wisniewski, Jaana Hartikainen, Weina Ju, Dorota N. Moroziewicz, Lucille McLendon, Susan Sklower Brooks and W Ted Brown

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04291.x

    5. Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22 (pages 239–241)

      Jari Louhelainen, Erica Lindströrn, Kari Hemrninki and Rune Toftgård

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04292.x

  5. Letter to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    7. Erratum
    1. Methods to detect the RYR1 G742A and A1565C mutations associated with malignant hyperthermia using a PCR-modified restriction sites technique (pages 242–244)

      Yoshitatsu Sei, Kathy Gallagher, Mike Flora, Geoffrey SF Ling and Sheila Muldoon

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04293.x

    2. Lack of association between ACE gene polymorphisms and 4 and asthma in British and Japanese populations (pages 245–247)

      Yoshitatsu Sei, Kathy Gallagher, Mike Flora, Geoffrey SF Ling, Sheila Muldoon, P-S Gao, X-Q Mao, M. Kawai, T. Enomoto, S. Sasuki, SR Shaldon, Y. Dake, H. Kitano, P. Coull, A. Hagihara, T. Shirakawa and JM Hopkin

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04294.x

    3. Distribution of CAG repeats in normal. and Huntington's disease patients in Israel (pages 250–251)

      E. Gazit, L. Lubomirov, O. Munakov, A. Topper, M. Frydman, K. Fried, Z. Borochovitz, N. Dangoor, A. Bogolubou and HJA Carp

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04296.x

    4. The Met54Leu polymorphism of paraoxonase (PON) enzyme gene is not a genetic risk factor for non-insulin-dependent diabetes mellitus in Finns (pages 254–255)

      Riikka Malin, Xiao-Hong Huang, Ole Wirta, Vappu Rantalaiho, Amos Pasternack, Hannu Jokela, Timo Koivula and Terho Lehtimäki

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04298.x

    5. Acheiropodia: new cases from Brazil (pages 256–257)

      Elizabeth Lemos Silveira and Ademar Freire-Maia

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04299.x

  6. Erratum

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    7. Erratum
    1. You have free access to this content
      Erratum (page 258)

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1998.tb04300.x

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