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2. Variant human phosphoribosyl-pyrophosphate synthetase altered in regulatory and catalytic functions;Becker;Journal of Clinical Investigation,1980
3. The MASA syndrome: a new heritable mental retardation syndrome;Bianchine;Clinical Genetics,1974
4. An X-linked recessively inherited syndrome characterised by grave mental deficiency, epilepsy and endocrine disorder;Börjeson;Acta Medica Scandinavica,1962
5. Ornithine transcarbamylase deficiency;Campbell;New England Journal of Medicine,1973