スポンサーリンク
山形大学 医学部小児科学 | 論文
- Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion
- Genetic Analysis of Shwachman-Diamond Syndrome : Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
- Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
- De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : unequal sister chromatid exchange during paternal gametogenesis
- Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene : The common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
- Congenital Central Hypoventilation Syndrome : A Novel Mutation of the RET Gene in an Isolated Case
- Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease
- Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
- Sudden Infant Death Syndrome Is Not Associated with the Mutation of PHOX2B Gene, a Major Causative Gene of Congenital Central Hypoventilation Syndrome
- Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome
- Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : rs17884724:A>C is associated with 7-alanine expansion