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Mutation: PITMR1-Gen
What you understand genetically today strengthens your breeding decisions tomorrow
die durch die Anhäufung von L-2-Hydroxyglutarsäure im Urin
and digit amputation
but carries one copy of the variant gene which may be transmitted to the offspring
Cystinurie Typ IA - Labrador Retriever Searchterm Mutation: PITMR1-GenCystinuria type I A is an autosomal recessive metabolic disorder of amino acid transport (cystine, ornithine, lysine, arginine) in kidneys with only cystine causing clinical problems. It is characterized by failure of reabsorption of cystine in the proximal renal tubule, leading to cystine precipitation in the urine and formation of cystine crystals stones in the kidneys, causing urolithiasis and urinary tract obstruction. The clinical signs occur
