Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.

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Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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Paternal Somatic Mosaicism of ...... Severe Congenital Neutropenia.

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Paternal Somatic Mosaicism of ...... Severe Congenital Neutropenia.

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Paternal Somatic Mosaicism of ...... Severe Congenital Neutropenia.

@en

Paternal Somatic Mosaicism of ...... Severe Congenital Neutropenia.

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Paternal Somatic Mosaicism of ...... Severe Congenital Neutropenia.

@en

Paternal Somatic Mosaicism of ...... Severe Congenital Neutropenia.

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P1476

Paternal Somatic Mosaicism of ...... Severe Congenital Neutropenia.

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P2093

Hee-Jin Kim

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Hee-Jung Kim

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Ki-O Lee

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Min-Jung Song

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Sun-Hee Kim

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P2860

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

Somatic mosaicism in hemophilia A: a fairly common event.

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

Neutrophil elastase in cyclic and severe congenital neutropenia.

Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B.

A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

P304

2229-2231

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P31

scholarly article

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10.1002/PBC.25654

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P433

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P478

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P577

2015-07-14T00:00:00Z

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P698

26174650

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