Fukai Kazuyoshi | Department Of Dermatology Osaka City University Graduate School Of Medicine

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著作論文

High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
TIE2 Gain-of-Function Mutation in a Patient with Pancreatic Lymphangioma Associated with Blue Rubber-Bleb Nevus Syndrome : Report of a Case
Rapid detection of Bartonella henselae heat shock protein DNA by nested polymerase chain reaction from swollen lymph nodes of a patient with cat-scratch disease
Case of cheilitis granulomatosa associated with apical periodontitis
Mutation analyses of patients with dyschromatosis symmetrica hereditaria : Five novel mutations of the ADAR1 gene
Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation
New KIT mutations in patients with piebaldism
Papular-Purpuric Gloves-and-Socks Syndrome with Bloody Bullae
A novel LMX1B nonsense mutation in a family with nail-patella syndrome

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