Literature DB >> 11241479

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.

C W Lam, P M Poon, S F Tong, C H Ko.   

Abstract

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Year:  2001        PMID： 11241479     DOI： 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 in total

Review 1.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

2.  Neuronal ceroid lipofuscinosis type 2: an Australian case series.

Authors:  Alexandra M Johnson; Simone Mandelstam; Ian Andrews; Katja Boysen; Joy Yaplito-Lee; Michael Fietz; Lakshmi Nagarajan; Victoria Rodriguez-Casero; Monique M Ryan; Nicholas Smith; Ingrid E Scheffer; Carolyn Ellaway
Journal:  J Paediatr Child Health       Date:  2020-04-24       Impact factor: 1.954

3.  Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Authors:  Emily Gardner; Mitch Bailey; Angela Schulz; Mikel Aristorena; Nicole Miller; Sara E Mole
Journal:  Hum Mutat       Date:  2019-07-26       Impact factor: 4.878
  3 in total

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