CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype

Molecular Genetics and Metabolism

Volumn 93, Issue 1, 2008, Pages 66-73

  Bessa, C ^a   Teixeira, C A ^a   Dias, A ^a   Alves, M ^a   Rocha, S ^a   Lacerda, L ^a   Loureiro, L ^d   Guimaraes A ^b,c   Ribeiro, M G ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d Hospital Sao Teotonio   (Portugal)

Author keywords

Chronic phenotype; CLN2 gene; Intronic gene defects; Late infantile neuronal ceroid lipofuscinosis; LINCL; Lysosomal storage disorders; Neuronal ceroid lipofuscinosis; Splicing mutations; TPP1 deficiency

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; MUTANT PROTEIN; PEPTIDASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CATALYSIS; CELL MIGRATION; CLN2 GENE; ENZYME DEFICIENCY; EXON; FIBROBLAST; GENE; GENE MUTATION; GENETIC ANALYSIS; HISTOCHEMISTRY; HUMAN; HUMAN CELL; INTRON; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; WILD TYPE;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASES; HUMANS; INTRONS; MALE; MUSCLE, SKELETAL; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; POINT MUTATION; RNA, MESSENGER;

EID: 36849026004     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.08.124     Document Type: Article

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