Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

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Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

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2018 nî lūn-bûn

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Splice-site mutation causing p ...... -Dubé syndrome: a case report.

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Splice-site mutation causing p ...... -Dubé syndrome: a case report.

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Item

label

Splice-site mutation causing p ...... -Dubé syndrome: a case report.

@en

Splice-site mutation causing p ...... -Dubé syndrome: a case report.

@nl

prefLabel

Splice-site mutation causing p ...... -Dubé syndrome: a case report.

@en

Splice-site mutation causing p ...... -Dubé syndrome: a case report.

@nl

P1476

Splice-site mutation causing p ...... g-Dubé syndrome: a case report

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P2093

Hironori Kobayashi

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Reiko Tanaka

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Takaaki Ito

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Yukio Nakatani

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P2860

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein

Identification and characterization of a novel folliculin-interacting protein FNIP2

Birt-Hogg-Dube syndrome: clinicopathological features of the lung

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN

Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys

Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia

The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis

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s12920-018-0359-5

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scholarly article

case report

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10.1186/S12920-018-0359-5

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Masaya Baba

Mitsuko Furuya

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2018-05-02T00:00:00Z

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1103744314

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29720200

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5930857

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