Title : Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.

Pub. Date : 2010 Oct

PMID : 20221774






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Mutational analysis of the ATP6V0A4 gene revealed novel compound heterozygous mutations: Ile549fsX580 and Ile557Leu558del. ile557leu558del ATPase H+ transporting V0 subunit a4 Homo sapiens