Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses

Genetic Testing

Volumn 4, Issue 3, 2000, Pages 243-248

  Zhong, N A ^a,b   Wisniewski, K E ^a,b   Ju, W ^a   Moroziewicz, D N ^a   Jurkiewicz, A ^a   McLendon, L ^a   Jenkins, E C ^a   Ted Brown, W ^a  

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

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ENZYME DEFICIENCY; FAMILY STUDY; GENE MUTATION; HETEROZYGOTE; HUMAN; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; NEURONAL CEROID LIPOFUSCINOSIS; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; INFANT; MIDDLE AGED; NEURONAL CEROID-LIPOFUSCINOSES; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; SENSITIVITY AND SPECIFICITY;

EID: 0033679721     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/10906570050501452     Document Type: Article

References (25)

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2. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S
3. Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16
4. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene
5. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1
6. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
7. Batten disease: Four genes and still counting
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9. Spectrum of mutations in the Batten disease gene, CLN3
10. Mitochondrial ATP synthase subunit C storage in the ceroid-lipofuscinoses (Batten Disease)
11. Batten disease, a twenty-eight-year struggle: Past, present and future
12. Loci for classical and a variant late infantile neuronal ceroid lipofuscinoses map to chromosome 11p15 and 15q21-23
13. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
14. Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR
15. Isolation of a novel gene underlying Batten disease, CLN3
16. Storage of saposins A and D in infantile neuronal ceroid lipofuscinosis
17. A guide to case management
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19. Variability in the clinical and pathological finding in the neuronal ceroid lipofuscinoses: Review of data and observations
20. Studies of atypical JNCL suggest overlapping with other NCL forms
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22. Neuronal ceroid lipofuscinoses: Research update
23. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis
24. Molecular screening of Batten disease: Identification of a novel missense mutation (E295K)
25. No evidence found that CLN-encoded proteins interact among each other