Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria (original) (raw)

Human genetics, 2010

Abstract

... Gene symbol: MECP2. Disease: Rett Syndrome. Khajuria R, Sapra S, Ghosh M, Gupta N,Gulati S, Kalra V, Kabra M. Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi, India. rajni.khajuria@gmail.com. ...

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