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January 01, 1997; 48 (1) Article

A Novel Mutation in the Sterol 27-hydroxylase Gene of a Pakistani Family with Autosomal Recessive Cerebrotendinous Xanthomatosis

M. S. Ahmed, S. Afsar, A. Hentati, A. Ahmad, J. Pasha, T. Juneja, Wu-Yen Hung, Ak. Ahmad, A. Choudhri, S. Saya, T. Siddique
First published January 1, 1997, DOI: https://doi.org/10.1212/WNL.48.1.258
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Article Information

vol. 48 no. 1 258-260
DOI: 
https://doi.org/10.1212/WNL.48.1.258
PubMed: 
9008528
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • First Published January 1, 1997.
Copyright & Usage: 
Copyright 1997 by Advanstar Communications Inc.

Author Disclosures

    1. M. S. Ahmed, PhD,
    2. S. Afsar, MRCP,
    3. A. Hentati, MD,
    4. A. Ahmad, MB, BS,
    5. J. Pasha, MB, BS,
    6. T. Juneja, MS,
    7. Wu-Yen Hung, PhD,
    8. Ak. Ahmad, FRCP,
    9. A. Choudhri, MD,
    10. S. Saya, MD and
    11. T. Siddique, MD
  1. M. S. Ahmed, PhD,
  2. S. Afsar, MRCP,
  3. A. Hentati, MD,
  4. A. Ahmad, MB, BS,
  5. J. Pasha, MB, BS,
  6. T. Juneja, MS,
  7. Wu-Yen Hung, PhD,
  8. Ak. Ahmad, FRCP,
  9. A. Choudhri, MD,
  10. S. Saya, MD and
  11. T. Siddique, MD
  1. From the Department of Neurology (Drs. Ahmed and Hentati, T. Juneja, and Drs. Hung and Siddique), Northwestern University Medical School, Chicago, IL; Department of Medicine (Drs. Afsar, A. Ahmad, Pasha, Ak. Ahmad, Choudhri, Saya, and Siddique), Dow Medical College, Civil Hospital, Karachi, Pakistan; Department of Cell & Molecular Biology (Dr. Siddique), Northwestern University Medical School, Chicago, IL; and Northwestern University Institute for Neuroscience (T. Juneja), Chicago, IL.
  2. Supported by NIH grants no. P01 NS31248 and NS21442 (T.S.), the Les Turner ALS Foundation, Searle Family Center for Neurological Disorders (T.S.), and The Herbert & Florence C. Wenske Foundation (T.S.). W.-H. Hung is a Muriel Heller Fellow.
  3. Received October 23, 1995. Accepted in final form May 14, 1996.
  4. Address correspondence and reprint requests to: Dr. T. Siddique, Northwestern University Medical School, Tarry 13-715, 303 E. Chicago Avenue, Chicago, IL 60611.
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