A New Locus for Variant Late Infantile Neuronal Ceroid Lipofuscinosis—CLN7
✍ Scribed by R.B Wheeler; J.D Sharp; W.A Mitchell; S.L Bate; R.E Williams; B.D Lake; R.M Gardiner
- Book ID
- 115639489
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 29 KB
- Volume
- 66
- Category
- Article
- ISSN
- 1096-7192
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The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL Finnish ; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death. Neurons and several extraneural
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported muta
The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants