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Dynamics of the Rhomboid-Like Protein Rhbdd2 Expression in Mouse Retina And Involvement of Its Human Ortholog in Retinitis Pigmentosa
(Amer Soc Biochemistry Molecular Biology Inc, 2013)
The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ...
Aspects of Pre-Eclamptic Toxemia of Pregnancy, Consanguinity, and Twinning in Ankara
(British Med Journal Publ Group, 1976)
It appears that women classed as having pre-eclamptic toxaemia are less frequently consanguineous with their husbands than all other mothers and in particular those mothers classed as having pregnancies complicated by ...
Molecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiency
(Amer Soc Hematology, 2003)
Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within ...