Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen

Clinica Chimica Acta

Volumn 418, Issue , 2013, Pages 107-108

  Bobillo Lobato, Joaquin ^a   Sánchez Peral, Blas A ^b   Durán Parejo, Pilar ^a   Jiménez Jiménez, Luis M ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b Applied Science   (Spain)

Author keywords

C. 32T>G (IVS1 13T>G) mutation; Dried blood spots; Pompe disease; Real time polymerase chain reaction

Indexed keywords

ALPHA GLUCOSIDASE; GENOMIC DNA;

ALPHA GLUCOSIDASE GENE; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE COURSE; DNA DENATURATION; DNA EXTRACTION; DNA ISOLATION; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LETTER; MELTING POINT; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY;

BASE SEQUENCE; DNA; DRIED BLOOD SPOT TESTING; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MUTATION, MISSENSE; REAL-TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; TEMPERATURE;

EID: 84873520065     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.12.015     Document Type: Letter

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