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searching for ATP6V1B1 3 found (8 total)

alternate case: aTP6V1B1

Lightwood–Albright syndrome (620 words) [view diff] exact match in snippet view article find links to article

form of inheritance. Specific genes include the SLC4A1 on chromosome 17, ATP6V1B1 on chromosome 2, and ATP6V0A4 on chromosome 7. Nephrons are the functional

Renal tubular acidosis (2,073 words) [view diff] exact match in snippet view article find links to article

disease will present in the patient's life. Patient's with mutations in ATP6V1B1 and ATP6V0A4 will present with symptoms within the first year of life,

Oliver Wrong (2,198 words) [view diff] exact match in snippet view article find links to article

either the B1 or a4 subunits of the kidney H+-ATPase due to mutation of the ATP6V1B1 andATP6V0A4 genes respectively. Hereditary 'Proximal' or 'Type 2 RTA' may