Literature DB >> 28620732

Mucolipidosis Type IV Due to Novel MCOLN1 Mutation.

Vykuntaraju K Gowda1,2, Varunvenkat M Srinivasan3, Maya Bhat4, Asha Benakappa3.   

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Year:  2017        PMID： 28620732     DOI： 10.1007/s12098-017-2401-6

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Authors:  M Sun; E Goldin; S Stahl; J L Falardeau; J C Kennedy; J S Acierno; C Bove; C R Kaneski; J Nagle; M C Bromley; M Colman; R Schiffmann; S A Slaugenhaupt
Journal:  Hum Mol Genet       Date:  2000-10-12       Impact factor: 6.150

2.  A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent.

Authors:  Parayil Sankaran Bindu; Narayanappa Gayathri; Thagadur C Yasha; Jerry M E Kovoor; Ramakrishnan Subasree; Sudheendra Rao; Samhita Panda; Pramod Kumar Pal
Journal:  J Child Neurol       Date:  2008-12       Impact factor: 1.987

3.  Mucolipidosis type IV: characteristic MRI findings.

Authors:  K P Frei; N J Patronas; K E Crutchfield; G Altarescu; R Schiffmann
Journal:  Neurology       Date:  1998-08       Impact factor: 9.910

4.  Review article: mucolipidosis IV.

Authors:  B F Crandall; M Philippart; W J Brown; D A Bluestone
Journal:  Am J Med Genet       Date:  1982-07

5.  The neurogenetics of mucolipidosis type IV.

Authors:  G Altarescu; M Sun; D F Moore; J A Smith; E A Wiggs; B I Solomon; N J Patronas; K P Frei; S Gupta; C R Kaneski; O W Quarrell; S A Slaugenhaupt; E Goldin; R Schiffmann
Journal:  Neurology       Date:  2002-08-13       Impact factor: 9.910
  5 in total

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