Literature DB >> 11317368

A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.

A Alvarez-Rodríguez1, B Triggs-Raine, P Barros-Núñez, C M Lozano.   

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Year:  2001        PMID： 11317368     DOI： 10.1002/humu.1128

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Natural history of infantile G(M2) gangliosidosis.

Authors:  Annette E Bley; Ourania A Giannikopoulos; Doug Hayden; Kim Kubilus; Cynthia J Tifft; Florian S Eichler
Journal:  Pediatrics       Date:  2011-10-24       Impact factor: 7.124

2.  Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Authors:  Li Ou; Sarah Kim; Chester B Whitley; Jeanine R Jarnes-Utz
Journal:  Mol Genet Metab Rep       Date:  2019-07-17

3.  Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.

Authors:  Jodi D Hoffman; Valerie Greger; Erin T Strovel; Miriam G Blitzer; Mark A Umbarger; Caleb Kennedy; Brian Bishop; Patrick Saunders; Gregory J Porreca; Jaclyn Schienda; Jocelyn Davie; Stephanie Hallam; Charles Towne
Journal:  Mol Genet Genomic Med       Date:  2013-09-16       Impact factor: 2.183
  3 in total

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