A Frame-Shift Mutation in the SLC34A2 Gene in Three Patients with Pulmonary Alveolar Microlithiasis in an Inbred Family
نویسندگان
چکیده
منابع مشابه
The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of calcium phosphate gradually accumulate in alveoli. Loss of function mutations in the gene SLC34A2 coding for the sodium phosphate co-transporter (NaPi-IIb) are responsible for genetic forms of alveolar microlithiasis. We now report a consanguineous Italian family from Calabria with two affected members ...
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We recently diagnosed a patient with pulmonary alveolar microlithiasis (PAM). Because loss-of-function mutations of the SLC34A2 gene are responsible for the development of PAM, we sought to sequence the SLC34A2 gene of the patient and his direct relatives, with a purpose to identify mutations that caused the PAM of the patient as well as the carriers of his family. We found a novel compound het...
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Pulmonary alveolar microlithiasis is a rare autosomal recessive disease characterized by the formation of calcium phosphate deposition in the alveoli. Although the disease most often occurs in children, most patients with the disease are diagnosed in adulthood due to the slow progression of the disease inside the lungs. In childhood, it often causes no symptoms, and changes in the lung parenchy...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2010
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.49.2702