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Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.
Rees, M I; Lewis, T M; Vafa, B; Ferrie, C; Corry, P; Muntoni, F; Jungbluth, H; Stephenson, J B; Kerr, M; Snell, R G; Schofield, P R; Owen, M J.
Affiliation
  • Rees MI; Department of Molecular Medicine, University of Auckland Medical School, Postbag 92019, Auckland, New Zealand. m.rees@auckland.ac.nz
Hum Genet ; 109(3): 267-70, 2001 Sep.
Article in En | MEDLINE | ID: mdl-11702206
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Collection: 01-internacional Database: MEDLINE Main subject: Reflex, Startle / Reflex, Abnormal / Receptors, Glycine / Muscle Hypertonia Limits: Humans Language: En Journal: Hum Genet Year: 2001 Document type: Article Affiliation country: New Zealand
Search on Google
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Collection: 01-internacional Database: MEDLINE Main subject: Reflex, Startle / Reflex, Abnormal / Receptors, Glycine / Muscle Hypertonia Limits: Humans Language: En Journal: Hum Genet Year: 2001 Document type: Article Affiliation country: New Zealand