A novel PTPN11 mutation in LEOPARD syndrome.

Human mutation

Volumn 21, Issue 6, 2003, Pages 654-

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

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN TYROSINE PHOSPHATASE; SIGNAL PEPTIDE; SRC HOMOLOGY 2 (SH2) DOMAIN CONTAINING PHOSPHATASES; SRC HOMOLOGY-2 (SH2) DOMAIN-CONTAINING PHOSPHATASES;

ADULT; ARTICLE; CASE REPORT; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; HUMAN; LEOPARD SYNDROME; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEOPARD SYNDROME; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, TERTIARY; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 1442283063     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9149     Document Type: Article

References (0)