RPS19 mutations in patients with Diamond-Blackfan anemia (Q24321535)

Europe PubMed Central

title

RPS19 mutations in patients with Diamond-Blackfan anemia (English)

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main subject

patient

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Ribosomal protein S17

1 reference

GOA release 2020-03-11

Ribosomal protein S24

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structural constituent of ribosome

GOA release 2020-03-11

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GOA release 2020-03-11

Diamond-Blackfan anemia

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inferred from title

author

Pierre-Emmanuel Gleizes

object named as

Pierre-Emmanuel Gleizes

10

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ORCID Public Data File 2021

author name string

Maria Francesca Campagnoli

1

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Ugo Ramenghi

2

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Marta Armiraglio

3

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Paola Quarello

4

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Emanuela Garelli

5

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Adriana Carando

6

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Federica Avondo

7

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Elisa Pavesi

8

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Sébastien Fribourg

9

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Fabrizio Loreni

11

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Irma Dianzani

Killing the messenger: new insights into nonsense-mediated mRNA decay

12

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language of work or name

English

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publication date

July 2008

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published in

Human Mutation

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volume

29

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issue

7

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page(s)

911-20

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Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

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Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

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