Human Mutation

Cover image for Human Mutation

1994

Volume 4, Issue 4

Pages fmi–fmi, 233–299

  1. Masthead

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

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040401

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Molecular genetics of metachromatic leukodystrophy (pages 233–242)

      Volkmar Gieselmann, Joel Zlotogora, Ann Harris, David A. Wenger and C. Phillip Morris

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040402

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP) (pages 253–256)

      Bharati Bapat, Terri Berk, Angela Mitri, Zane Cohen, Steven Gallinger and Hartley Stern

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040404

    2. Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation (pages 257–262)

      Andreas Winterpacht, Matthias Hilbert, Ulrike Schwarze, Stefan Mundlos, Jürgen Spranger and Bernhard Zabel

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040405

    3. Mutation analysis of Jewish hunter patients in Israel (pages 263–270)

      E. Ben Simon-Schiff, G. Bach, J. J. Hopwood and D. Abeliovich

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040406

    4. Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska genetic semen bank (pages 271–275)

      Monica D. Traystman, Nancy A. Schulte, Madeline MacDonald, James R. Anderson and Warren G. Sanger

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040407

  4. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. A robotics-assisted procedure for large scale cystic fibrosis mutation analysis (pages 281–290)

      Jean M. DeMarchi, C. Sue Richards, Raymond G. Fenwick, Robert Pace and Arthur L. Beaudet

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040409

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease) (pages 291–293)

      Maryann L. Huie, Rochelle Hirschhorn, Agnes S. Chen, Frank Martiniuk and Nan Zhong

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040410

    2. Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I (pages 294–296)

      W. Richard Chegwidden, Lynn E. Wagner, Patrick J. Venta, Nils C. H. Bergenhem, Ya-Shiou L. Yu and Richard E. Tashian

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040411

    3. Phenylketonuria in Southern Poland: A new splice mutation in intron 9 at the PAH locus (pages 297–299)

      Marta Zygulska, Antonin Eigel, Jacek J. Pietrzyk and Jürgen Horst

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040412

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