Art

J-GLOBAL ID：200902172126725873   Reference number：02A0611901

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

カルニチンパルミトイルトランスフェラーゼIA欠損における2つの変異の発現解析

Author (8)： OGAWA E (Chiba Univ., Chiba, JPN) ,  KANAZAWA M (Chiba Univ., Chiba, JPN) ,  YAMAMOTO S (Chiba Univ., Chiba, JPN) ,  OHTSUKA S (Chiba Univ., Chiba, JPN) ,  OGAWA A (Chiba Univ., Chiba, JPN) ,  OHTAKE A (Saitama Medical Univ., Saitama, JPN) ,  TAKAYANAGI M (Chiba Children’s Hospital, Chiba, JPN) ,  KOHNO Y (Chiba Univ., Chiba, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 47  Issue： 7  Page： 342-347  Publication year： 2002 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： mutant ,...
Semi thesaurus term： *carnitine palmitoyltransferase ,...

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JST classification (4)： Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Genetic variation  (EC01030Y) ,  Enzyme in general  (EB09010D)

Reference (29)：

• BERGMAN, AJ. Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res. 1994, 36, 582-588
• BIEBER, LL. Carnitine. Annu Rev Biochem. 1988, 57, 261-283
• BONNEFONT, JP. Deficiency of carnitine palmitoyltransferase. I. J Child Neurol. 1989, 4, 198-203
• BOUGNERES, PF. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr. 1981, 98, 742-746
• BRITTON, CH. Human liver mitochondrial carnitine palmitoyltransferase I : characterization of its cDNA and chromosomal localization and partial analyss of the gene. Proc Natl Acad Sci USA. 1995, 92, 1984-1988

Terms in the title (3)： 欠損 ,  変異 ,  発現解析