X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28
- 1 May 2002
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 70 (5), 1349-1356
- https://doi.org/10.1086/340092
Abstract
No abstract availableKeywords
This publication has 36 references indexed in Scilit:
- X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency SyndromeAmerican Journal of Human Genetics, 2001
- XLMR genes: update 2000European Journal of Human Genetics, 2001
- X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28American Journal of Medical Genetics, 1999
- Renpenning Syndrome Maps to Xp11American Journal of Human Genetics, 1998
- Creatine kinase in non-muscle tissues and cellsMolecular and Cellular Biochemistry, 1994
- XLMR genes: Update 1990American Journal of Medical Genetics, 1991
- A Study of Institutionalized Mentally Retarded Patients in Manitoba. I: Classification and PreventabilityDevelopmental Medicine and Child Neurology, 1980
- Severe Mental Retardation in a Swedish County – II. Etiologic and Pathogenetic Aspects of Children Born 1959–1970Neuropediatrics, 1977
- An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967American Journal of Medical Genetics, 1977
- X-linked mental retardationJournal of Medical Genetics, 1974