TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

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Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report.Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees.

P2860

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TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

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TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

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prefLabel

TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

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P1476

TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

@en

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Jing Gan

http://www.w3.org/2001/XMLSchema#string

Li feng Wang

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Ming ming Xu

http://www.w3.org/2001/XMLSchema#string

Yu Zhang

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Yu hua Li

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Zhen guo Liu

http://www.w3.org/2001/XMLSchema#string

Zheng Pu

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P2860

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association.

Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China.

Genetics and molecular biology of tuberous sclerosis complex.

TSC1/TSC2 signaling in the CNS.

Evolving neurobiology of tuberous sclerosis complex.

Three novel mutations of TSC1 gene in Chinese patients with tuberous sclerosis complex.

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family hist

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.

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s12017-015-8354-x

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202-208

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scholarly article

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10.1007/S12017-015-8354-X

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P478

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2015-04-22T00:00:00Z

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1014682730

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25900779

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TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

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P2860

P2860

TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698