Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease
نویسندگان
چکیده
منابع مشابه
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
BACKGROUND Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations. OBJECTIVE To test the hypothesi...
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ژورنال
عنوان ژورنال: Journal of Child Science
سال: 2021
ISSN: 2474-5871
DOI: 10.1055/s-0041-1725175