GFAP mutations in Alexander disease-Reference-Cited by-同舟云学术

GFAP mutations in Alexander disease

Published:2002-04-17 Issue:3-5 Volume:20 Page:259-268
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Li Rong¹,Messing Albee²,Goldman James E.³,Brenner Michael¹⁴

Affiliation:

1. Department of NeurobiologyUniversity of Alabama at BirminghamCIRC 529, 1530 3rd Avenue SouthBirminghamAL35294‐0021USA

2. Department of Pathobiological SciencesWaisman CenterSchool of Veterinary MedicineUniversity of WisconsinMadisonWI53705‐2280USA

3. Department of PathologyCenter for Neurobiology and BehaviorColumbia University College of Physicians and Surgeons630 West 168th StreetNew YorkNY10032USA

4. Department of Physical Medicine and RehabilitationUniversity of Alabama at BirminghamCIRC 529, 1530 3rd Avenue SouthBirminghamAL35294‐0021USA

Funder

National Institute of Neurological Disorders and Stroke

Michigan Retirement Research Center, University of Michigan

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/S0736-5748%2802%2900019-9

Reference86 articles.

1. A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease

2. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis

3. Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

4. Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

5. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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