The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. Homozygous mutations in C
โฆ LIBER โฆ
A Novel Mutation of the CLN8 Gene: Is There a Mediterranean Phenotype?
โ Scribed by Nathanel Zelnik; Muhammad Mahajna; Theodore C. Iancu; Reuven Sharony; Marsha Zeigler
- Book ID
- 116825117
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 330 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0887-8994
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