Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations-Reference-Cited by-同舟云学术

Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Published:2006 Issue:9 Volume:27 Page:975-976
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Borozdin Wiktor,Bravo Ferrer Acosta Ana M.,Bamshad Michael J.,Botzenhart Elke M.,Froster Ursula G.,Lemke Johannes,Schinzel Albert,Spranger Stephanie,McGaughran Julie,Wand Dorothea,Chrzanowska Krystyna H.,Kohlhase Jürgen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.9449/fullpdf

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3. Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach;Biochemistry and Biophysics Reports;2021-12

4. Functional analysis of two novel TBX5 variants present in individuals with Holt–Oram syndrome with different clinical manifestations;Molecular Genetics and Genomics;2021-04-17

5. Multiple heart malformations in a patient with Holt—Oram syndrome;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2020-11-22