A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I

International Journal of Dermatology

Volumn 53, Issue 8, 2014, Pages 1012-1015

  Farooq, Muhammad ^a   Fujikawa, Hiroki ^a   Fujimoto, Atsushi ^a   Kubo, Yoshiaki ^b   Ito, Masaaki ^a   Shimomura, Yutaka ^a  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; HUMAN; JAPANESE (PEOPLE); MARKER GENE; NONSENSE MUTATION; SCHOOL CHILD; SYNDROME; TRICHORHINOPHALANGEAL SYNDROME; TRPS1 GENE; CHONDRODYSPLASIA; CONGENITAL MALFORMATION; FINGER; GENETICS; HAIR DISEASE; JAPAN; NOSE; STOP CODON;

DNA BINDING PROTEIN; STOP CODON; TRANSCRIPTION FACTOR; TRPS1 PROTEIN, HUMAN;

CHILD; CODON, NONSENSE; DNA-BINDING PROTEINS; FEMALE; FINGERS; HAIR DISEASES; HUMANS; JAPAN; LANGER-GIEDION SYNDROME; NOSE; TRANSCRIPTION FACTORS;

EID: 84904367725     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2012.05694.x     Document Type: Article

References (9)

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