Literature DB >> 16435223

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

C Cavicchi1, M A Donati, E Pasquini, G M Poggi, C Dionisi-Vici, R Parini, E Zammarchi, A Morrone.   

Abstract

We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.

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Year:  2005        PMID： 16435223     DOI： 10.1007/s10545-005-0191-x

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  6 in total

1.  Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

Authors:  I Berger; A Shaag; Y Anikster; E R Baumgartner; M Bar-Meir; A Joseph; O N Elpeleg
Journal:  Mol Genet Metab       Date:  2001-05       Impact factor: 4.797

2.  Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.

Authors:  Heidi L Peters; Mikhael Nefedov; Lai Wah Lee; Jose E Abdenur; Nestor A Chamoles; Stephen G Kahler; Panayiotis A Ioannou
Journal:  Hum Mutat       Date:  2002-11       Impact factor: 4.878

3.  N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

Authors:  C Acquaviva; J F Benoist; I Callebaut; N Guffon; H Ogier de Baulny; G Touati; A Aydin; D Porquet; J Elion
Journal:  Eur J Hum Genet       Date:  2001-08       Impact factor: 4.246

4.  mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.

Authors:  A Fuchshuber; B Mucha; E R Baumgartner; M Vollmer; F Hildebrandt
Journal:  Hum Mutat       Date:  2000-08       Impact factor: 4.878

5.  Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

Authors:  Cécile Acquaviva; Jean-François Benoist; Sabrina Pereira; Isabelle Callebaut; Thu Koskas; Dominique Porquet; Jacques Elion
Journal:  Hum Mutat       Date:  2005-02       Impact factor: 4.878

6.  Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.

Authors:  H Mikami; M Ogasawara; Y Matsubara; M Kikuchi; S Miyabayashi; S Kure; K Narisawa
Journal:  J Hum Genet       Date:  1999       Impact factor: 3.172
  6 in total
  2 in total

1.  Clinical characteristics and gene mutation analysis of methylmalonic aciduria.

Authors:  Qin Yi; Juanjuan Lv; Fengyan Tian; Hong Wei; Qin Ning; Xiaoping Luo
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2011-06-14

Review 2.  Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

Authors:  D Sean Froese; Roy A Gravel
Journal:  Expert Rev Mol Med       Date:  2010-11-29       Impact factor: 5.600
  2 in total

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