TY  - JOUR
AU  - Lopez-Lopez, Daniel
AU  - Loucera, Carlos
AU  - Carmona, Rosario
AU  - Aquino, Virginia
AU  - Salgado, Josefa
AU  - Pasalodos, Sara
AU  - Miranda, María
AU  - Alonso, Ángel
AU  - Dopazo, Joaquín
PY  - 2020
DO  - 10.1002/humu.24120
UR  - http://hdl.handle.net/10668/16425
T2  - Human mutation
AB  - Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The...
LA  - en
KW  - SMA
KW  - next generation sequencing
KW  - pipeline
KW  - Base Sequence
KW  - DNA Copy Number Variations
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Reproducibility of Results
KW  - Software
KW  - Survival of Motor Neuron 1 Protein
TI  - SMN1 copy-number and sequence variant analysis from next-generation sequencing data.
TY  - research article
VL  - 41
ER  -