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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
Bachetti, Tiziana; Matera, Ivana; Borghini, Silvia; Di Duca, Marco; Ravazzolo, Roberto; Ceccherini, Isabella.
Affiliation
  • Bachetti T; Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy.
Hum Mol Genet ; 14(13): 1815-24, 2005 Jul 01.
Article in En | MEDLINE | ID: mdl-15888479
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Collection: 01-internacional Database: MEDLINE Main subject: Peptides / Transcription Factors / Frameshift Mutation / Homeodomain Proteins / Hypoventilation Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2005 Document type: Article Affiliation country: Italy Country of publication: United kingdom
Search on Google
Add to My VHL
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Peptides / Transcription Factors / Frameshift Mutation / Homeodomain Proteins / Hypoventilation Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2005 Document type: Article Affiliation country: Italy Country of publication: United kingdom