TY  - GEN
AU  - Bobillo Lobato,Joaquin
AU  - Sánchez Peral,Blas A
AU  - Durán Parejo,Pilar
AU  - Jiménez Jiménez,Luis M
TI  - Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen
SN  - 1873-3492
PY  - 2014///0110
KW  - Base Sequence
KW  - DNA
KW  - genetics
KW  - Dried Blood Spot Testing
KW  - Glycogen Storage Disease Type II
KW  - Humans
KW  - Mutation, Missense
KW  - Real-Time Polymerase Chain Reaction
KW  - Sensitivity and Specificity
KW  - Temperature
N1  - Publication Type: Letter
UR  - https://doi.org/10.1016/j.cca.2012.12.015
ER  -