Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

Human Genetics

Volumn 104, Issue 2, 1999, Pages 143-148

  Aoki, Yoko ^a   Li, Xue ^a   Sakamoto, Osamu ^a   Hiratsuka, Masahiro ^a   Akaishi, Hiroshi ^a   Xu, Liquing ^a   Briones, Paz ^b   Suormala, Terttu ^c   Regula Baumgartner, E ^c   Suzuki, Yoichi ^a   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARBOXYLASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DERMATITIS; ENZYME DEFICIENCY; GENE DELETION; HUMAN; KETOACIDOSIS; MISSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

CARBON-NITROGEN LIGASES; GENE EXPRESSION REGULATION; HUMANS; INFANT; INFANT, NEWBORN; MUTATION;

EID: 0033049264     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050927     Document Type: Article

References (18)

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