Publications:

Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine

Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H

Publication Date: 2021-09

Variant appearance in text: DNAH11: 9764T>C

PubMed Link: 34405951

Variant Present in the following documents:

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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Thorax

Knowles, Michael R MR; Leigh, Margaret W MW; Carson, Johnny L JL; Davis, Stephanie D SD; Dell, Sharon D SD; Ferkol, Thomas W TW; Olivier, Kenneth N KN; Sagel, Scott D SD; Rosenfeld, Margaret M; Burns, Kimberlie A KA; Minnix, Susan L SL; Armstrong, Michael C MC; Lori, Adriana A; Hazucha, Milan J MJ; Loges, Niki T NT; Olbrich, Heike H; Becker-Heck, Anita A; Schmidts, Miriam M; Werner, Claudius C; Omran, Heymut H; Zariwala, Maimoona A MA; ,

Publication Date: 2012-05

Variant appearance in text: DNAH11: L3255S

PubMed Link: 22184204

Variant Present in the following documents:

• Main text

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