Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis

NAN Zhong; K. E Wisniewski; J Hartikainen; WEINA JU; D. N Moroziewicz; L Mclendon; S. S Brooks; W. T Brown

doi:10.1111/j.1399-0004.1998.tb04291.x

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Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis

Journal article

Peer reviewed

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis

NAN Zhong, K. E Wisniewski, J Hartikainen, WEINA JU, D. N Moroziewicz, L Mclendon, S. S Brooks and W. T Brown

Clinical genetics, Vol.54(3), pp.234-238

1998

DOI: https://doi.org/10.1111/j.1399-0004.1998.tb04291.x

PMID: 9788728

Abstract

Biological and medical sciences

Errors of metabolism

Lipids (lysosomal enzyme disorders, storage diseases)

Medical sciences

Metabolic diseases

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28 Times Cited - Web of Science

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Details

Title: Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis
Creators: NAN Zhong - Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
K. E Wisniewski - Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
J Hartikainen - Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
WEINA JU - Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
D. N Moroziewicz - Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
L Mclendon - Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
S. S Brooks - Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
W. T Brown - Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, United States
Publication Details: Clinical genetics, Vol.54(3), pp.234-238
Date published: 1998
Publisher: Blackwell
Academic Unit: Pediatrics - Medical Genetics (RWJMS)
Language: English
Resource Type: Journal article
Identifiers: 991031665202204646