Jansky–Bielschowsky disease
Gwedd
autosomal recessive genetic disorder
enghraifft o'r canlynol
clefyd prin
dosbarth o glefyd
isddosbarth o'r canlynol
neuronal ceroid lipofuscinosis[1]
enwyd ar ôl
Jan Janský
Max Bielschowsky
arbenigedd meddygol
endocrinoleg
cysyniad o'r un fath
Cyfeiriadau
- ↑ 1.0 1.1 1.2 1.3 Monarch Disease Ontology release 2018-06-29, 3 Gorffennaf 2018, MONDO_0015674
- ↑ Freebase Data Dumps, 28 Hydref 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