Jansky–Bielschowsky disease
autosomal recessive genetic disorder
üksikjuht nähtusest
rare disease
class of disease
mille alamklass
neuronal ceroid lipofuscinosis[1]
nimetatud ... järgi
Jan Janský
Max Bielschowsky
meditsiiniline eriala
täpne vaste
Viited
- ↑ 1,0 1,1 1,2 1,3 Monarch Disease Ontology release 2018-06-29, 3. juuli 2018, MONDO_0015674
- ↑ Freebase Data Dumps, 28. oktoober 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