Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients

Molecular Genetics and Metabolism

Volumn 100, Issue 2, 2010, Pages 143-148

  Forges, Thierry ^a,b   Chery, Céline ^a   Audonnet, Sandra ^a   Feillet, François ^a,c   Gueant, Jean Louis ^a,c  

^a INSERM   (France)

^b Maternite Regionale Universitaire   (France)

^c UNIVERSITY HOSPITAL OF NANCY   (France)

Author keywords

Betaine; Homocysteine; MTHFR; Neurological distress

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; GENOMIC DNA; VITAMIN B GROUP;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EARLY INTERVENTION; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXON; FATALITY; FEMALE; HETEROZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; LABORATORY TEST; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77952090438     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.03.002     Document Type: Article

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