Literature DB >> 8162030

Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.

M Ali1, G Sebastio, T M Cox.   

Abstract

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Year:  1994        PMID： 8162030     DOI： 10.1093/hmg/3.1.203

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  5 in total

1.  A six-month-old infant with liver steatosis.

Authors:  Michael O Stormon; Ernest Cutz; Katryn Furuya; Melanie Bedford; Laura Yerkes; Dean R Tolan; Annette Feigenbaum
Journal:  J Pediatr       Date:  2004-02       Impact factor: 4.406

2.  Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

Authors:  R Santamaria; S Tamasi; G Del Piano; G Sebastio; G Andria; C Borrone; G Faldella; P Izzo; F Salvatore
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

Review 3.  Hereditary fructose intolerance.

Authors:  M Ali; P Rellos; T M Cox
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

4.  Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Authors:  Erin M Coffee; Laura Yerkes; Elizabeth P Ewen; Tiffany Zee; Dean R Tolan
Journal:  J Inherit Metab Dis       Date:  2009-12-23       Impact factor: 4.982

Review 5.  Estimation of hereditary fructose intolerance prevalence in the Chinese population.

Authors:  Meiling Tang; Xiang Chen; Qi Ni; Yulan Lu; Bingbing Wu; Huijun Wang; Zhaoqing Yin; Wenhao Zhou; Xinran Dong
Journal:  Orphanet J Rare Dis       Date:  2022-08-26       Impact factor: 4.303
  5 in total

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