Molecular Genetic Study of a Japanese Family with Lesch-Nyhan Syndrome--A Point Mutation at the Concensus Region of RNA Splicing
スポンサーリンク
概要
Japan Society of Human Genetics | 論文
- THREE JAPANESE PATIENTS WITH CRIGLER-NAJJAR SYNDROME TYPE I CARRY AN IDENTICAL NONSENSE MUTATION IN THE GENE FOR UDP-GLUCURONOSYLTRANSFERASE
- DINUCLEOTIDE REPEAT POLYMORPHISM IN 65k-GLUTAMATE DECARBOXYLASE GENE
- Metacarpophalangeal Pattern Profile Analysis in 14 Japanese Children with Sotos Syndrome
- INCIDENCE OF PEROXISOMAL DISORDERS IN JAPAN
- FISH MAPPING OF A TRANSLOCATION BREAKPOINT AT 6q21 (OR q22) IN A PATIENT WITH HETEROTAXIA