Molecular analysis of two novel mut gene mutations in Chinese patient with methylmalonic academia

Chinese Journal of Neurology

Volumn 39, Issue 11, 2006, Pages 742-744

  Chang, Hui Bo ^a   Wu, Jian Xin ^b   Liu, Zhe Wei ^b   Wang, Li Wen ^b   Xu, Ke Ming ^b   Zhang, Yu ^b   Li, Yuan Yuan ^b   Zhang, Ting ^b  

^a Department of Pediatric Surgery   (China)

^b NONE

Author keywords

Methylmalonic acid; Methylmalonyl CoA mutase; Mutation

Indexed keywords

GENOMIC DNA; METHYLMALONYL COENZYME A MUTASE; OLIGONUCLEOTIDE; PRIMER DNA;

ARTICLE; CHINA; ENZYME STRUCTURE; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; METHYLMALONIC ACIDEMIA; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STOP CODON;

EID: 33846345396     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Acquaviva C, Benoist JF, Callebaut I, et al. N219Y, a new frequent mutation among mut (degree) forms of methylmalonic acidemia in Caucasian patients. Eur J Hum Genet, 2001, 9: 577-582.
2. Nham SU, Wilkemeyer MF, Ledley FD. Structure of the human methylmalonyl-CoA mutase (MUT) locus. Genomics, 1990, 8; 710-716.
3. Chinese source
4. Cavicchi C, Donati MA, Funghini S, et al. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. Clin Genet, 2006, 69: 72-76.
5. Adjalla CE, Hosack AR, Gilfix BM, et al. Seven novel mutations in mut methylmalonic aciduria. Hum Mutat, 1998, 11: 270-274.