LPIN1
deficiency: A novel mutation associated with different phenotypes in the same family
Mol Genet Metab Rep
.
2016 Oct 2:9:29-30.
doi: 10.1016/j.ymgmr.2016.09.004.
eCollection 2016 Dec.
Authors
D Nunes
1
,
C Nogueira
1
,
A Lopes
1
,
P Chaves
2
,
E Rodrigues
2
,
T Cardoso
2
,
E Leão Teles
2
,
L Vilarinho
1
Affiliations
1
Newborn Screening, Metabolism & Genetics Unit, Genetics Department, National Institute of Health, INSA, Porto, Portugal.
2
Metabolic Unit, CHSJ, Porto, Portugal.
PMID:
27722093
PMCID:
PMC5050266
DOI:
10.1016/j.ymgmr.2016.09.004
No abstract available