Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0393754 (
HSA
)
2,996
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model (OCL) has well defined parallels with the human disease at a biochemical and pathological level. The gene for OCL is located in the chromosomal region OAR 7q13-15. This region is syntenic with
HSA
15q21-23 suggesting that OCL and
CLN6
represent mutations in orthologous genes. New microsatellite markers were used for refinement of the OCL critical region. YAC clones that span the critical region have been isolated and comparative gene mapping confirms that the regions for
CLN6
and OCL are equivalent.
...
PMID:Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6. 1158 4
