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机译:纯合的畸变突变L673p在腺苷酸激酶7(ak7)中导致鞭毛的原发性不育症和多种形态异常,但不是原发性睫状体障碍
INSERM Inst Cochin U1016 F-75014 Paris France;
Univ Grenoble Alpes CNRS INSERM Inst Adv Biosci U1209 UMR 5309 F-38000 Grenoble France;
INSERM Inst Cochin U1016 F-75014 Paris France;
INSERM Inst Cochin U1016 F-75014 Paris France;
INSERM Inst Cochin U1016 F-75014 Paris France;
Univ Pierre &
Marie Curie Paris 6 INSERM UMR S933 F-75012 Paris France;
INSERM Inst Cochin U1016 F-75014 Paris France;
INSERM Inst Cochin U1016 F-75014 Paris France;
Univ Paris Est CNRS INSERM Equipe 13 UMR S955 Fac Med ERL7240 F-94000 Creteil France;
INSERM Inst Cochin U1016 F-75014 Paris France;
INSERM Inst Cochin U1016 F-75014 Paris France;
Childrens Hosp Div Newborn Med 300 Longwood Ave Boston MA 02115 USA;
Childrens Hosp Div Newborn Med 300 Longwood Ave Boston MA 02115 USA;
Univ Bordeaux CNRS Microbiol Fondamentale &
Pathogenicite UMR 5234 Bordeaux France;
Univ Paris 05 Sorbonne Paris Cite Fac Med F-75014 Paris France;
Univ Paris Est CNRS INSERM Equipe 13 UMR S955 Fac Med ERL7240 F-94000 Creteil France;
INSERM Inst Cochin U1016 F-75014 Paris France;
Univ Pierre &
Marie Curie Paris 6 INSERM UMR S933 F-75012 Paris France;
Univ Grenoble Alpes CNRS INSERM Inst Adv Biosci U1209 UMR 5309 F-38000 Grenoble France;
CNRS Inst Polytech Bordeaux UMR 5234 Microbiol Fondamentale &
Pathogenicite F-33000 Bordeaux;
Univ Massachusetts Dept Biochem &
Mol Biol Amherst MA 01003 USA;
Univ Pierre &
Marie Curie Paris 6 INSERM UMR S933 F-75012 Paris France;
Univ Grenoble Alpes CNRS INSERM Inst Adv Biosci U1209 UMR 5309 F-38000 Grenoble France;
Univ Paris 05 Sorbonne Paris Cite Fac Med F-75014 Paris France;
INSERM Inst Cochin U1016 F-75014 Paris France;
机译:纯合的畸形突变L673P在腺苷酸激酶7(AK7)中导致鞭毛的原发性不育症和鞭毛的多种形态异常,但不是原发性睫状体动脉瘤(Vol 27,PG 1196,2018)
机译:原发性睫状运动障碍的新腺苷酸激酶7(AK7)突变
机译:Spef2中的纯合突变诱导精子鞭毛和男性不孕症的多种形态异常
机译:双位等位基因DNAH8变体导致精子鞭毛的多种形态异常和原发性男性不孕症
机译:逆变:纯合的畸变突变L673p在腺苷激酶7(AK7)中导致鞭毛的原发性不育症和多种形态异常,但不是原发性睫状体障碍