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Literature DB >> 26494713

Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl.

Mohsen Suliaman Al-Atawi¹, Sulaiman Abdullah Al-Queflie¹, Hamad Abdullah Al-Sadoon¹.

Abstract

We report a case of a 36-month-old Saudi girl who presented with recurrent episodes of unexplained hypoelectrolytaemia. Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation. 2015 BMJ Publishing Group Ltd.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2015 PMID： 26494713 PMCID： PMC4620217 DOI： 10.1136/bcr-2014-208925

Source DB: PubMed Journal: BMJ Case Rep ISSN： 1757-790X

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References

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Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl.

1. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.

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