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2018 1

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CFTR gene 1

cystic fibrosis 1

diagnosis 1

hypokalemic alkalosis 1

infants 1

mutations 1

pseudo-Bartter syndrome 1

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cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Frontiers of Medicine 2018, Volume 12, Issue 5,   Pages 550-558 doi: 10.1007/s11684-017-0567-y

Abstract: alkalosis.Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infantsalkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement.Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemicalkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases

Keywords： cystic fibrosis     pseudo-Bartter syndrome     hypokalemic alkalosis     CFTR gene     mutations     infants     diagnosis    

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cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Journal Article