Volume 11, Issue S1 pp. S304-S307
Mutation in Brief
Free Access

Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

Dr. Noriyuki Katsumata

Corresponding Author

Dr. Noriyuki Katsumata

Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan

Department of Endocrinology and Metabolism, National Children's Medical Research Center, 3-35-31 Taishido, Setagaya-ku, Tokyo 154, JapanSearch for more papers by this author
Ayako Tanae

Ayako Tanae

Division of Endocrinology and Metabolism, National Children's Hospital, Tokyo, Japan

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Takashi Shinagawa

Takashi Shinagawa

Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan

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Atsuko Nagashima-Miyokawa

Atsuko Nagashima-Miyokawa

Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan

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Mayumi Shimizu

Mayumi Shimizu

Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan

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Toru Yasunaga

Toru Yasunaga

Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan

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Toshiaki Tanaka

Toshiaki Tanaka

Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan

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Itsuro Hibi

Itsuro Hibi

Division of Endocrinology and Metabolism, National Children's Hospital, Tokyo, Japan

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First published: 28 April 2011
Citations: 5
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