Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene
スポンサーリンク
概要
- 論文の詳細を見る
- 1999-07-01
著者
-
Yorifuji Tohru
Department of Pediatrics, Kyoto University Hospital
-
Muroi Junko
Department Of Pediatrics Kyoto University Hospital
-
Yorifuji Tohru
Department Of Pediatrics Kyoto University Hospital
-
UEMATSU Ayumi
Department of Pediatrics, Kyoto University Hospital
-
Yorifuji Tohru
Department Of Pediatrics Kyoto University
-
Uematsu Ayumi
Department Of Pediatrics Kyoto University Hospital
関連論文
- Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature
- Nephrogenic diabetes insipidus and tethered cord syndrome with a lipoma of the cauda equina
- Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency
- 23 Effects of the earlier initiation of GH therapy on the final height and starting time of gonadot ropin replacement in children with multiple pituitary hormone deficiency.
- Current Controversy on Growth Hormone Therapy in Non-Growth Hormone Deficient Short Stature
- An MRI study of the myelination pattern in West syndrome
- Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism
- Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene
- Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
- Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
- Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening