Jansky–Bielschowsky disease

Reference

1. ↑ ^{೧.೦ ೧.೧ ೧.೨ ೧.೩} Monarch Disease Ontology release 2018-06-29, ೩ ಜುಲೈ 2018, MONDO_0015674
2. ↑ Freebase Data Dumps, ೨೮ ಅಕ್ಟೋಬರ್ 2013
3. ↑ The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
4. ↑ Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
5. ↑ The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
6. ↑ CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis