DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies

Clinical Chemistry

Volumn 42, Issue 4, 1996, Pages 643-644

  Novelli, Giuseppe ^a,b,c,d   Capon, Francesca ^a   Levato, Chiarina ^a   Cavicchini, Ada ^b   Dallapiccola, Bruno ^a,b,c  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b Cyberonics Inc   (Italy)

^c Ospedale CSS   (Italy)

^d Cattedra de Genetica Umana   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; EPITOPE;

ARTICLE; DNA DETERMINATION; ENZYME IMMUNOASSAY; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; RELIABILITY; SPINAL MUSCULAR ATROPHY;

EID: 0029878582     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/42.4.643     Document Type: Article

References (7)

1. Dubowitz V. Muscle disorders of childhood. London: WB Saunders, 1995: 325-64.
2. Lefebvre S, Burglen L, Rebouleet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995:80:1-11.
3. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-4.
4. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, et al. PCR-based test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-6.
5. Munsat TL, Davies KE. Spinal muscular atrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. Baarn, The Netherlands: ENMC, 1994:48-52.
6. Mantero G, Zonaro A, Albertini A, Bertolo P, Primi D. DNA enzyme immunoassay: general method for detecting products of polymerase chain reaction. Clin Chem 1991;37:422-9.
7. Capon F, Levato C, Semprini S, Pizzuti A, Merlini L, Novelli G, Dallapiccola B. Molecular diagnosis of spinal muscular atrophy by direct SMN and NAIP gene deletions analysis. Muscle Nerve (in press).