The ribosomal basis of diamond-blackfan anemia: mutation and database update

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F10%3A10215517" target="_blank" >RIV/61989592:15110/10:10215517 - isvavai.cz</a>

Alternative codes found

RIV/00023736:_____/10:00008916

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

The ribosomal basis of diamond-blackfan anemia: mutation and database update

Original language description

Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Human Mutation

ISSN

1059-7794

e-ISSN

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Volume of the periodical

31

Issue of the periodical within the volume

12

Country of publishing house

US - UNITED STATES

Number of pages

11

Pages from-to

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UT code for WoS article

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EID of the result in the Scopus database

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