Literature DB >> 2336380

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

N C Cross1, L M Stojanov, T M Cox.   

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Year:  1990        PMID： 2336380      PMCID： PMC330648          DOI： 10.1093/nar/18.7.1925

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  1 in total

1.  Molecular analysis of aldolase B genes in hereditary fructose intolerance.

Authors:  N C Cross; R de Franchis; G Sebastio; C Dazzo; D R Tolan; C Gregori; M Odievre; M Vidailhet; V Romano; G Mascali
Journal:  Lancet       Date:  1990-02-10       Impact factor: 79.321
  1 in total
  9 in total

1.  Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance.

Authors:  P Rellos; M Ali; M Vidailhet; J Sygusch; T M Cox
Journal:  Biochem J       Date:  1999-05-15       Impact factor: 3.857

2.  Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Authors:  Lorenzo Ferri; Anna Caciotti; Catia Cavicchi; Miriam Rigoldi; Rossella Parini; Marina Caserta; Guido Chibbaro; Serena Gasperini; Elena Procopio; Maria Alice Donati; Renzo Guerrini; Amelia Morrone
Journal:  JIMD Rep       Date:  2012-02-24

3.  Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.

Authors:  C C Brooks; D R Tolan
Journal:  Am J Hum Genet       Date:  1993-04       Impact factor: 11.025

4.  Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

Authors:  C C Brooks; N Buist; J Tuerck; D R Tolan
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

Review 5.  Hereditary fructose intolerance.

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

6.  Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Authors:  G Sebastio; R de Franchis; P Strisciuglio; G Andria; C Dionisi Vici; G Sabetta; R Gatti; N C Cross; T M Cox
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

7.  Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

Authors:  M Ali; G Tunçman; N C Cross; M Vidailhet; I Bökesoy; R Gitzelmann; T M Cox
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

8.  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

9.  A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.

Authors:  Hae-Won Choi; Yeoun Joo Lee; Seak Hee Oh; Kyung Mo Kim; Jeong-Min Ryu; Beom Hee Lee; Gu-Hwan Kim; Han-Wook Yoo
Journal:  Gut Liver       Date:  2012-01-12       Impact factor: 4.519
  9 in total

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