Identification of eight novel NSD1 mutations in Sotos syndrome.

Journal of medical genetics

Volumn 40, Issue 11, 2003, Pages

  Kamimura, J ^a   Endo, Y ^a   Kurotaki, N ^a   Kinoshita, A ^a   Miyake, N ^a   Shimokawa, O ^a   Harada, N ^a   Visser, R ^a   Ohashi, H ^a   Miyakawa, K ^a   Gerritsen, J ^a   Innes, A M ^a   Lagace, L ^a   Frydman, M ^a   Okamoto, N ^a   Puttinger, R ^a   Raskin, S ^a   Resic, B ^a   Culic, V ^a   Yoshiura, K ^a   Ohta, T ^a   Kishino, T ^a   Ishikawa, M ^a   Niikawa, N ^a   Matsumoto, N ^a   more..

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; NSD1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL PEPTIDE;

ALTERNATIVE RNA SPLICING; ARTICLE; BONE DYSPLASIA; CLINICAL TRIAL; CRANIOFACIAL MALFORMATION; FEMALE; GENETICS; GROWTH DISORDER; HUMAN; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MULTICENTER STUDY; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; PREDICTION AND FORECASTING;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; BONE DISEASES, DEVELOPMENTAL; CARRIER PROTEINS; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GROWTH DISORDERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR FAMILY; NUCLEAR PROTEINS; PREDICTIVE VALUE OF TESTS;

EID: 1542648240     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.11.e126     Document Type: Article

References (0)