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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Tabata, Ayako ; Sheng, Jian-Sheng ; Ushikai, Miharu ; Song, Yuan-Zong ; Gao, Hong-Zhi ; Lu, Yao-Bang ; Okumura, Fumihiko ; Iijima, Mikio ; Mutoh, Kozo ; Kishida, Shosei ; Saheki, Takeyori ; Kobayashi, Keiko

Journal of human genetics, 2008-06, Vol.53 (6), p.534-545 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Angiomyolipoma of the liver presenting a homogeneously hypoechoic mass
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Artigo
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Angiomyolipoma of the liver presenting a homogeneously hypoechoic mass

Iijima, Hiroko ; Moriyasu, Fuminori ; Koezuka, Asuka ; Nishigami, Takashi ; Hada, Toshikazu ; Fujimoto, Jiro

Journal of gastroenterology, 2005-09, Vol.40 (9), p.916-917 [Periódico revisado por pares]

Japan: Springer Nature B.V

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