Associated Papers
Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings.
Ju W et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2006
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.
Ju W et al.
Journal of Medical Genetics, 2002
Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis.
Bodzioch M et al.
Clinical Chemistry, 2000
[Identification of a new mutation (CysII6Gly) in a family with neurogenic diabetes insipidus].
van den Akker EL et al.
Nederlands Tijdschrift Voor Geneeskunde, 2000
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
Zhong N et al.
Clinical Genetics, 1998
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