Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis

Human mutation

Volumn 15, Issue 2, 2000, Pages 206-207

  Waliany, Sophie ^a   Das, Amit K ^a   Gaben, Ahmad ^a   Wisniewski, Krystyna E ^b   Hofmann, Sandra L ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE; PALMITOYL-PROTEIN THIOESTERASE; THIOL ESTER HYDROLASE;

ARTICLE; CHILD; FEMALE; GENETICS; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; THIOLESTER HYDROLASES;

EID: 0034132564     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU14>3.0.CO;2-L     Document Type: Article

References (0)