Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1

Pediatrics International

Volumn 50, Issue 6, 2008, Pages 806-809

  Fujioka, Hirotaka ^a   Ariga, Tadashi ^a   Horiuchi, Katsumi ^b   Ishikiriyama, Satoshi ^c   Oyama, Kimie ^d   Otsu, Makoto ^a   Kawashima, Kunihiro ^a   Yamamoto, Yuhei ^a   Sugihara, Tsuneki ^a   Sakiyama, Yukio ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b SAPPORO CITY GENERAL HOSPITAL   (Japan)

^c SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Deletion; Missense mutation; TCOF1; Treacher Collins syndrome; Treacle

Indexed keywords

AMINO ACID;

ADULT; ANAMNESIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; GENE; GENE SEQUENCE; HUMAN; INFANT; MANDIBULOFACIAL DYSOSTOSIS; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TCOF1 GENE;

ADOLESCENT; ADULT; ALANINE; CODON, NONSENSE; FRAMESHIFT MUTATION; HUMANS; INFANT; LYSINE; MANDIBULOFACIAL DYSOSTOSIS; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; VALINE;

EID: 56549104627     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2008.02650.x     Document Type: Article

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