ceroid उदाहरण वाक्य

उदाहरण वाक्य

1. Deficiency of " CTSD " gene has been reported an underlying cause of neuronal ceroid lipofuscinosis ( NCL ).
2. Mutations in the " TPP1 " gene lead to late infantile neuronal ceroid lipofuscinosis, a fatal neurodegenerative disease of childhood.
3. Mutations in this gene are associated with progressive epilepsy with mental retardation ( EPMR ), a subtype of neuronal ceroid lipofuscinosis ( NCL ).
4. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
5. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
6. The neuronal ceroid lipofuscinoses ( NCLs ) are a group of inherited neurodegenerative disorders with pathological phenotypes that auto fluorescent lipopigments present in neurons and other cell types.
7. The luminal cells will often have decapitation ( apocrine ) secretions and will also have yellow-brown, ceroid, lipofuscin-like ( cerumen ) pigment granules.
8. "' Jansky Bielschowsky disease "'is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis ( NCL ) family of neurodegenerative disorders.
9. Mutations of gene " TPP1 " result in late-infantile neuronal ceroid lipofuscinosis which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome.
10. In 2 Mexican siblings with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, a homozygous mutation in the KCTD7 gene ( R184C ) has been identified.