Molecular screening of Batten disease: Identification of a missense mutation (E295K) in the CLN3 gene

Human Genetics

Volumn 102, Issue 1, 1998, Pages 57-62

  Zhong, Nan ^a,b   Wisniewski, Krystyna E ^a   Kaczmarski, Alexandra L ^a   Ju, Weina ^a   Xu, Wei Min ^a   Xu, William W ^a,b   Mclendon, Lucilla ^a   Liu, Bo ^a,b   Kaczmarski, Wojciech ^a   Brooks, Susan Sklower ^a   Brown, W Ted ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b LONG ISLAND UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUTAMIC ACID; LYSINE;

AMINO ACID SUBSTITUTION; ARTICLE; DNA SEQUENCE; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN CONFORMATION;

CANIS FAMILIARIS;

EID: 17444450809     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050654     Document Type: Article

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