Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: A screening evaluation for SMN1 deletions and intragenic mutations

Genetic Testing and Molecular Biomarkers

Volumn 15, Issue 10, 2011, Pages 677-684

  Morikawa, Satoru ^a   Harahap, Indra Sari Kusuma ^a   Kaszynski, Richard Hideki ^a   Yamamoto, Tomoto ^a   Pramudya, Dian Kesuma ^a   Van Pham, Huyen Thi ^a   Hartomo, Tri Budi ^a   Lee, Myeong Jin ^a   Morioka, Ichiro ^a   Nishimura, Noriyuki ^a   Yokoyama, Naoki ^a   Ueno, Yasuhiro ^a   Matsuo, Masafumi ^a   Nishio, Hisahide ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1;

ARTICLE; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INTRAGENIC MUTATION; INTRON; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; DNA PROBES; GENE DELETION; GENETIC TESTING; HUMANS; INTRONS; MUSCULAR ATROPHY, SPINAL; MUTATION; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SENSITIVITY AND SPECIFICITY; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 80054699390     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0237     Document Type: Article

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