Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL; CLN1)

Human Mutation

Volumn 15, Issue 3, 2000, Pages 273-279

  Salonen, Tarja ^a   Järvelä, Irma ^a   Peltonen, Leena ^a,b   Jalanko, Anu ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

CLN1; INCL; Infantile neuronal ceroid lipofuscinosis; Palmitoyl protein thioesterase; PPT

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; EXON; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; INTRON; NEURONAL CEROID LIPOFUSCINOSIS; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; POINT MUTATION; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; THIOLESTER HYDROLASES;

EID: 0342948922     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200003)15:3<273::AID-HUMU8>3.0.CO;2-L     Document Type: Article

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