Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia

Biochemical Genetics

Volumn 45, Issue 5-6, 2007, Pages 421-430

  Keeratichamroen, Siriporn ^a   Cairns, James R Ketudat ^a,b   Sawangareetrakul, Phannee ^a   Liammongkolkul, Somporn ^c   Champattanachai, Voraratt ^a   Srisomsap, Chantragan ^a   Kamolsilp, Mahattana ^d   Wasant, Pornswan ^c   Svasti, Jisnuson ^a,e  

^a Krung Thep Maha Nakhon   (Thailand)

^b SURANAREE UNIVERSITY OF TECHNOLOGY   (Thailand)

^c MAHIDOL UNIVERSITY   (Thailand)

^d PHRAMONGKUTKLAO HOSPITAL   (Thailand)

^e MAHIDOL UNIVERSITY   (Thailand)

Author keywords

cblB; Methylmalonic acidemia; Methylmalonyl CoA mutase; Mutation

Indexed keywords

COBAMAMIDE; METHYLMALONYL COENZYME A MUTASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA POLYMORPHISM; ETHNIC GROUP; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INFANT; INTRON; MALE; METHYLMALONIC ACIDEMIA; MOLECULAR GENETICS; NONSENSE MUTATION;

ACIDOSIS; ALKYL AND ARYL TRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MUTATION; PHENOTYPE; THAILAND;

EID: 34250755916     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10528-007-9085-y     Document Type: Article

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