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Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Pineda-Alvarez, Daniel E; Roessler, Erich; Hu, Ping; Srivastava, Kshitij; Solomon, Benjamin D; Siple, C Evan; Fan, Chen-Ming; Muenke, Maximilian.
Affiliation
  • Pineda-Alvarez DE; Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD 20892-3717, USA.
Hum Genet ; 131(2): 301-10, 2012 Feb.
Article in En | MEDLINE | ID: mdl-21842183
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Holoprosencephaly / Cell Cycle Proteins / Mutation, Missense Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Genet Year: 2012 Document type: Article Affiliation country: United States Country of publication: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Holoprosencephaly / Cell Cycle Proteins / Mutation, Missense Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Genet Year: 2012 Document type: Article Affiliation country: United States Country of publication: Germany