Mutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction

Indian Journal of Biochemistry and Biophysics

Volumn 40, Issue 6, 2003, Pages 439-441

  Kesari, Akanchha ^a   Mukherjee, Monisha ^a   Mittal, Balraj ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Allele specific amplification; DNA diagnosis; Mutation analysis; Polymerase chain reaction; Prenatal diagnosis; SMN gene; Spinal muscular atrophy

Indexed keywords

AGAROSE;

ANALYTIC METHOD; ARTICLE; CELL SURVIVAL; CENTROMERE; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE DELETION; HOMOZYGOSITY; HUMAN; MOTONEURON; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINAL MUSCULAR ATROPHY; TELOMERE;

ALLELES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MUSCULAR ATROPHY, SPINAL; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 5444272776     PISSN: 03011208     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Panigrahi I, Kesari A, Phadke S R & Mittal B (2002) Neurol India 50, 117-22
2. Wirth B (2000) Hum Mut 15, 228-237
3. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P & Viollet L (1995) Cell 80, 155-165
4. Chang J G, Jong Y J, Lin S P, Soong B W, Tsai C H & Yang TY (1997) Hum Genet 100, 557-581
5. Van der Steege G, Grootscholten P M, Van der Vlies P, Draaijers T G, Osinga J & Cobben J M (1995) Lancet 345, 985-986
6. Moutou C, Gardes N, Rongieres C, Ohl J, Lebugle K B & Wittemer C (2001) Prenat Diagn 21, 498-503
7. Munsat T L & Davies K E (1992) Neuromuscl Disord 2, 423-428
8. Blin N & Stafford D W (1976) Nucl Acid Res 3, 2303
9. Green G E, Scott D A, McDonald J M, Woodworth G G, Sheffield V C & Smith R J (1999) JAMA 281, 2211-2216
10. Srivastava S, Mukherjee M, Panigrahi I, Pandey G S, Pradhan S & Mittal B (2001) Am J Med Genet 101, 198-202