Two novel CLN2 gene mutations in an Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis [2]

American Journal of Medical Genetics

Volumn 99, Issue 2, 2001, Pages 161-163

  Lam, Ching Wan ^a   Poon, Priscilla Miu Kuen ^a   Tong, Sui Fan ^a   Ko, Chun Hung ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b Department of Pediatrics Caritas Medical Center ^*  (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; DEGENERATIVE DISEASE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LETTER; LYSOSOME STORAGE DISEASE; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MYOCLONUS SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RETINA DEGENERATION; SEIZURE;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASES; EXONS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEPTIDE HYDROLASES; SEQUENCE ANALYSIS, DNA;

ATAXIA;

EID: 0035281532     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1145>3.0.CO;2-Z     Document Type: Letter

References (11)

1. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis
2. The neuronal ceroid-lipofuscinoses. Recent advances
3. Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis
4. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis
5. Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
6. Tripeptidyl-peptidase 1 is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis
7. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
8. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
9. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
10. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I
11. Late infantile type neuronal ceroid lipofuscinosis: Report of one case