A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches

Neuromuscular Disorders

Volumn 18, Issue 2, 2008, Pages 146-149

  Eggermann, Thomas ^a   Eggermann, Katja ^a   Elbracht, Miriam ^a   Zerres, Klaus ^a   Rudnik Schöneborn, Sabine ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Basepair substitution; MLPA; PCR; Real time PCR; Restriction; SMA; SMN1

Indexed keywords

OLIGONUCLEOTIDE; SURVIVAL MOTOR NEURON PROTEIN;

ARTICLE; CASE REPORT; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RNA SPLICING; SPINAL MUSCULAR ATROPHY;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FATAL OUTCOME; GENETIC SCREENING; HUMANS; INFANT; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; POINT MUTATION; REPRODUCIBILITY OF RESULTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA-BINDING PROTEINS;

EID: 39649124252     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.10.003     Document Type: Article

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