A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 608-610

  Ben Shachar, Shay ^a   Zvi, Tal ^a   Rolfs, Arndt ^b,c   Breda Klobus, Andrea ^c   Yaron, Yuval ^a,d   Bar Shira, Anat ^a   Orr Urtreger, Avi ^a,d  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF ROSTOCK   (Germany)

^c CENTOGENE AG   (Germany)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

Bukhara; Founder mutation; MTHFR

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENINE; HOMOCYSTEINE; THYMINE;

AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN CELL; JEW; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEIZURE; SPLICING DEFECT; STOP CODON;

ALLELES; EXONS; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; HETEROZYGOTE; HOMOCYSTINURIA; HUMANS; INFANT; JEWS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUSCLE SPASTICITY; MUTATION; PSYCHOTIC DISORDERS; SEVERITY OF ILLNESS INDEX; UZBEKISTAN;

EID: 84867902288     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.08.011     Document Type: Article

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