TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

Human Mutation

Volumn 25, Issue 5, 2005, Pages 429-434

  Splendore, Alessandra ^b   Fanganiello, Roberto D ^a   Masotti, Cibele ^a   Morganti, Lucas S C ^a   Passos Bueno, M Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO NACIONAL DE CÂNCER   (Brazil)

Author keywords

Database; Mutation nomenclature; TCOF1; Treacher Collins syndrome

Indexed keywords

COMPLEMENTARY DNA; ISOPROTEIN;

DATA BASE; EXON; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONLINE SYSTEM; PRIORITY JOURNAL; REVIEW; RNA SPLICING; SOUTHERN BLOTTING; STATISTICAL ANALYSIS; TCOF1 GENE;

ALTERNATIVE SPLICING; BASE SEQUENCE; DATABASES, NUCLEIC ACID; EXONS; HUMANS; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHOSPHOPROTEINS; TERMINOLOGY;

EID: 18744413947     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20159     Document Type: Review

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