Point Mutations of Rhodopsin Gene Found in Japanese Families with Autosomal Dominant Retinitis Pigmentosa(ADRP)
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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