(Q34293499)

English

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome (English)

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Europe PubMed Central

PubMed publication ID

1 August 2017

6

object named as

Gen Nishimura

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Europe PubMed Central

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1 August 2017

7

object named as

Shiro Ikegawa

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Europe PubMed Central

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1 August 2017

author name string

Eiji Nakashima

1

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Europe PubMed Central

PubMed publication ID

1 August 2017

Akihiko Mabuchi

2

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Europe PubMed Central

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1 August 2017

Yoshio Makita

3

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Europe PubMed Central

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1 August 2017

Mitsuo Masuno

4

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Europe PubMed Central

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1 August 2017

Hirofumi Ohashi

5

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Europe PubMed Central

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1 August 2017

publication date

29 January 2004

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1 August 2017

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Europe PubMed Central

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1 August 2017

114

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1 August 2017

4

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Europe PubMed Central

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1 August 2017

345-348

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Europe PubMed Central

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1 August 2017

https://scigraph.springernature.com/pub.10.1007/s00439-004-1081-2

0 references

Mutations in SBDS are associated with Shwachman-Diamond syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14749921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shwachman-diamond syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14749921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/14749921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14749921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/14749921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

1 reference

https://pubmed.ncbi.nlm.nih.gov/14749921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-004-1081-2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dimensions Publication ID

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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