High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the β-subunit of propionyl CoA carboxylase

American Journal of Human Genetics

Volumn 67, Issue 1, 2000, Pages 203-206

  Ravn, Kirstine ^a   Chloupkova, Maja ^c   Christensen, Ernst ^a   Brandt, Niels Jacob ^a,b   Simonsen, Henrik ^b   Kraus, Jan P ^c   Nielsen, Inge Merete ^d   Skovby, Flemming ^a   Schwartz, Marianne ^a  

^a Rigshospitalet   (Denmark)

^b STATENS SERUM INSTITUT   (Denmark)

^c Children's Hospital Colorado   (United States)

^d NAESTVED HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; FATTY ACID; PROPIONYL COENZYME A CARBOXYLASE;

ALLELE; ALPHA CHAIN; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA CHAIN; DISEASE SEVERITY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; HYPERAMMONEMIA; HYPERGLYCINEMIA; METABOLIC ACIDOSIS; MOLECULAR CLONING; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN DEGRADATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0033939624     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302971     Document Type: Article

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