Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.

Human genetics

Volumn 124, Issue 3, 2008, Pages 323-324

  Cismondi, I Adriana ^a   Kohan, Romina ^a   Ghio, Addy ^a   Ramirez, Ana M Oller ^a   Halac, Inés Noher ^a  

^a UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

CLN6 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADOLESCENT; ARGENTINA; ARTICLE; BIOPSY; CASE REPORT; CODON; ETHNOLOGY; EXON; FEMALE; FRAMESHIFT MUTATION; GENETICS; HETEROZYGOTE; HUMAN; MALE; MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; PHENOTYPE; STOP CODON; AMINO ACID SUBSTITUTION; MISSENSE MUTATION; POINT MUTATION;

ADOLESCENT; ARGENTINA; BIOPSY; CODON; CODON, TERMINATOR; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; AMINO ACID SUBSTITUTION; MUTATION, MISSENSE; POINT MUTATION;

EID: 54449098487     PISSN: None     EISSN: 14321203     Source Type: Journal    
DOI: None     Document Type: Article

References (0)