Mutations in DDHD1 , encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation

Title
Mutations in DDHD1 , encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation
Authors
Keywords
DDHD1, Hereditary spastic paraplegia, Retinopathy, Phospholipids, NBIA
Journal
European Journal of Medical Genetics
Volume 60, Issue 12, Pages 639-642
Publisher
Elsevier BV
Online
2017-08-15
DOI
10.1016/j.ejmg.2017.08.015

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