Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.

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Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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Exome sequencing for simultane ...... hagocytic lymphohistiocytosis.

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label

Exome sequencing for simultane ...... hagocytic lymphohistiocytosis.

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prefLabel

Exome sequencing for simultane ...... hagocytic lymphohistiocytosis.

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P1476

Exome sequencing for simultane ...... phagocytic lymphohistiocytosis

@en

P2093

Darintr Sosothikul

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Ekawat Pasomsub

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Ekchol Mukda

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Nareenart Iemwimangsa

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Objoon Trachoo

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Rawiphorn Tiyasirichokchai

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Wasun Chantratita

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P2860

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

Exome sequencing identifies the cause of a mendelian disorder

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes

Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis

A method and server for predicting damaging missense mutations

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

P2888

s12185-017-2223-3

P304

282-290

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scholarly article

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10.1007/S12185-017-2223-3

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P433

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P478

106

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Samart Pakakasama

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2017-03-28T00:00:00Z

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P6179

1084034362

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P698

28353193

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