Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F14%3A10281962" target="_blank" >RIV/00216208:11310/14:10281962 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/14:10281962 RIV/00064165:_____/14:10281962

Result on the web

—

DOI - Digital Object Identifier

—

Result language

angličtina

Original language name

Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients

Original language description

Defects of the SHOX gene (short stature homeobox-containing gene) or its regulatory sequences have been obviously associated with Léri-Weill dyschondrosteosis, Langer syndrome, and idiopathic short stature. We have analysed an association of a small common ~4,9kb deletion (L05101), ~200kb downstream of SHOX gene nearby its known regulatory sequences. We confirmed that this small PAR1 deletion represents a non-pathogenic polymorphism.

Czech name

—

Czech description

—

Type

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

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

—

Project

<a href="/en/project/NS10327" target="_blank" >NS10327: Complex genetic analysis of patients with mental retardation and dysmorphias - establisment of proper diagnostic procedure</a><br>

Continuities

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

Journal of Genetics

ISSN

0022-1333

e-ISSN

—

Volume of the periodical

93

Issue of the periodical within the volume

2

Country of publishing house

IN - INDIA

Number of pages

4

Pages from-to

505-508

UT code for WoS article

000343508900025

EID of the result in the Scopus database

—