A novel PTPN11 mutation in LEOPARD syndrome.

Conti, E; Dottorini, T; Sarkozy, A; Tiller, G E; Esposito, G; Pizzuti, A; Dallapiccola, B

Conti, E; Dottorini, T; Sarkozy, A; Tiller, G E; Esposito, G; Pizzuti, A; Dallapiccola, B.

Affiliation

Conti E; Ospedale CSS, IRCCS, San Giovanni Rotondo, Italy.

Hum Mutat ; 21(6): 654, 2003 Jun.

Article in En | MEDLINE | ID: mdl-14961557

Subject(s)

LEOPARD Syndrome/genetics; Mutation, Missense; Protein Tyrosine Phosphatases/genetics; Adult; DNA/chemistry; DNA/genetics; DNA Mutational Analysis; Humans; Intracellular Signaling Peptides and Proteins; LEOPARD Syndrome/pathology; Male; Models, Molecular; Polymorphism, Single-Stranded Conformational; Protein Structure, Tertiary/genetics; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Protein Tyrosine Phosphatases/chemistry

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Collection: 01-internacional Database: MEDLINE Main subject: Protein Tyrosine Phosphatases / Mutation, Missense / LEOPARD Syndrome Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2003 Document type: Article Affiliation country: Italy Country of publication: United States

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