Titre:
  • Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
Auteur:Elsea, S H; Juyal, R C; Jiralerspong, S; Finucane, B M; Pandolfo, Massimo; Greenberg, F; Baldini, A; Stover, P; Patel, P I
Informations sur la publication:American journal of human genetics, 57, 6, page (1342-1350)
Statut de publication:Publié, 1995-12
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Abnormalities, Multiple -- genetics
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 17 -- genetics
Gene Deletion
Glycine Hydroxymethyltransferase -- blood
Glycine Hydroxymethyltransferase -- genetics
Glycine Hydroxymethyltransferase -- urine
Humans
Mental Retardation -- genetics
Molecular Sequence Data
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langue:Anglais
Identificateurs:urn:issn:0002-9297
info:pmid/8533763
PMC1801426