(Q57518110)

English

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

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title

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion (English)

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main subject

Bernard-Soulier syndrome

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Motohiro Kato

4

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author name string

Shinji Kunishima

series ordinal

1

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Tsuyoshi Imai

series ordinal

2

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Ryoji Kobayashi

series ordinal

3

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Seishi Ogawa

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5

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Hidehiko Saito

series ordinal

6

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publication date

August 2013

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published in

Pediatrics International

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volume

55

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issue

4

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page(s)

434-437

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cites work

Bernard-Soulier syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FPED.12105

retrieved

21 January 2018

Genetic abnormalities of Bernard-Soulier syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FPED.12105

retrieved

21 January 2018

Glycoprotein Ib-IX-V.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FPED.12105

retrieved

21 January 2018

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FPED.12105

retrieved

21 January 2018

Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FPED.12105

retrieved

21 January 2018

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FPED.12105

retrieved

21 January 2018

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(Q57518110)

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

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