Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III

American Journal of Medical Genetics

Volumn 75, Issue 4, 1998, Pages 395-400

  Hazelwood, Senator ^a   Bernardini, Isa ^a   Shotelersuk, Vorasuk ^a   Tangerman, Albert ^a   Guo, Juanru ^a   Mudd, Harvey ^a   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Adenosylmethionine; Demyelination; Hypermethioninemia; Methionine adenosyltransferase

Indexed keywords

METHIONINE; METHIONINE ADENOSYLTRANSFERASE;

ADULT; AMINOACIDEMIA; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE INSERTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ADULT; BRAIN; BREATH TESTS; CHILD, PRESCHOOL; DISULFIDES; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; ISOENZYMES; LIVER; MALE; METHIONINE; METHIONINE ADENOSYLTRANSFERASE; MYELIN SHEATH; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SULFIDES;

MAMMALIA;

EID: 0032477711     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980203)75:4<395::AID-AJMG9>3.0.CO;2-P     Document Type: Article

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