SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.

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SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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name

SAMD9 and SAMD9L in inherited ...... nia, and myeloid malignancies.

@en

SAMD9 and SAMD9L in inherited ...... nia, and myeloid malignancies.

@nl

type

Item

label

SAMD9 and SAMD9L in inherited ...... nia, and myeloid malignancies.

@en

SAMD9 and SAMD9L in inherited ...... nia, and myeloid malignancies.

@nl

prefLabel

SAMD9 and SAMD9L in inherited ...... nia, and myeloid malignancies.

@en

SAMD9 and SAMD9L in inherited ...... nia, and myeloid malignancies.

@nl

P1476

SAMD9 and SAMD9L in inherited ...... nia, and myeloid malignancies.

@en

P2093

Josef Davidsson

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Jörg Cammenga

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

Lars Nilsson

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P275

Creative Commons Attribution

P2860

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7

Cytogenetic features in myelodysplastic syndromes

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes.

Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.

Fetal Brain Magnetic Resonance Imaging Findings In Congenital Cytomegalovirus Infection With Postnatal Imaging Correlation.

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis.

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

Clonal dynamics of native haematopoiesis.

P2888

s41375-018-0074-4

P304

1106-1115

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P31

scholarly article

review article

P356

10.1038/S41375-018-0074-4

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P433

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

P478

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P50

Ulf Tedgård

Andreas Puschmann

David Bryder

P5008

ScienceSource

P577

2018-02-25T00:00:00Z

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

2018-05-01T00:00:00Z

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P698

29535429

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P921

pancytopenia

genetic variation

neoplasm proteins

myelodysplastic syndrome

P932

5940635

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