False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.

Genetic testing and molecular biomarkers

Volumn 13, Issue 4, 2009, Pages 511-513

  Kang, Seong Ho ^a   Cho, Sung Im ^a   Chae, Jong Hee ^a   Chung, Kyu Nam ^a   Ra, Eun Kyung ^a   Kim, So Yeon ^a   Seong, Moon Woo ^a   Kim, Ji Yeon ^a   Park, Sung Sup ^a  

^a Seoul National University Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; TTTAAA -SPECIFIC TYPE II DEOXYRIBONUCLEASES; TTTAAA SPECIFIC TYPE II DEOXYRIBONUCLEASES; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ARTICLE; CASE REPORT; DNA SEQUENCE; EXON; GENE DELETION; GENETICS; HOMOZYGOTE; HUMAN; INFANT; LABORATORY DIAGNOSIS; MALE; METABOLISM; METHODOLOGY; MOLECULAR GENETICS; NUCLEIC ACID AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

BASE SEQUENCE; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EXONS; FALSE POSITIVE REACTIONS; HOMOZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 70350462575     PISSN: None     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2008.0158     Document Type: Article

References (0)