Literature DB >> 30198554

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.

U S Melo1, F Freua2, D S Lynch3, B D Ripa2, R B Tenorio4, J A M Saute4, F de Souza Leite1, J Kitajima5, H Houlden3, M Zatz1, F Kok1,2,5.   

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Year:  2018        PMID： 30198554     DOI： 10.1111/cge.13428

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  1 in total

Review 1.  Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.

Authors:  Fang Peng; Yi-Min Sun; Chao Quan; Jian Wang; Jian-Jun Wu
Journal:  Orphanet J Rare Dis       Date:  2019-04-25       Impact factor: 4.123
  1 in total

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