An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

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Veröffentlicht in:American Journal of Medical Genetics Part A 2007, Vol.143A (7), p.721-726
Hauptverfasser: Udaka, Toru, Okamoto, Nobuhiko, Aramaki, Michihiko, Torii, Chiharu, Kosaki, Rika, Hosokai, Noboru, Hayakawa, Toshiyuki, Takahata, Naoyuki, Takahashi, Takao, Kosaki, Kenjiro
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Sprache:eng
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CHARGE syndrome
DHPLC
quantitative PCR
rearrangement
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container_title American Journal of Medical Genetics Part A
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creator Udaka, Toru
Okamoto, Nobuhiko
Aramaki, Michihiko
Torii, Chiharu
Kosaki, Rika
Hosokai, Noboru
Hayakawa, Toshiyuki
Takahata, Naoyuki
Takahashi, Takao
Kosaki, Kenjiro
description
doi_str_mv 10.1002/ajmg.a.31441
format Report
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source Wiley Online Library Journals Frontfile Complete
subjects CHARGE syndrome
DHPLC
quantitative PCR
rearrangement
title An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome
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