Literature DB >> 11017954

Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis.

M Bodzioch1, C Aslanidis, M Kacinski, N Zhong, K E Wisniewski, G Schmitz.   

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Year:  2000        PMID： 11017954

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  1 in total

1.  Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Authors:  Jayesh Sheth; Mehul Mistri; Riddhi Bhavsar; Dhairya Pancholi; Mahesh Kamate; Neerja Gupta; Madhulika Kabra; Sanjiv Mehta; Sheela Nampoothiri; Arpita Thakker; Vivek Jain; Raju Shah; Frenny Sheth
Journal:  BMC Neurol       Date:  2018-12-12       Impact factor: 2.903
  1 in total

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