Jansky–Bielschowsky disease
autosomal recessive genetic disorder
ಉದಾಹರಣೆಗೆ
rare disease
class of disease
ಉಪವರ್ಗ
neuronal ceroid lipofuscinosis[೧]
ಸ್ಮರಣಾರ್ಥ
Jan Janský
Max Bielschowsky
health specialty
exact match
Reference
- ↑ ೧.೦ ೧.೧ ೧.೨ ೧.೩ Monarch Disease Ontology release 2018-06-29, ೩ ಜುಲೈ 2018, MONDO_0015674
- ↑ Freebase Data Dumps, ೨೮ ಅಕ್ಟೋಬರ್ 2013
- ↑ The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
- ↑ Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
- ↑ The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
- ↑ CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis