Next-generation sequencing corroborates a probable
de novo GNPTG
variation previously detected by Sanger sequencing
Mol Genet Metab Rep
.
2017 Mar 1:11:92-93.
doi: 10.1016/j.ymgmr.2017.02.002.
eCollection 2017 Jun.
Authors
Nataniel Floriano Ludwig
1
2
,
Fernanda Sperb-Ludwig
1
2
,
Renata Voltolini Velho
3
,
Ida Vanessa D Schwartz
1
2
4
Affiliations
1
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
2
BRAIN Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
3
Section of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
4
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
PMID:
28649512
PMCID:
PMC5470938
DOI:
10.1016/j.ymgmr.2017.02.002
No abstract available
Keywords:
De novo alteration; Mucolipidosis III gamma; Next-generation sequencing.