Richner-Hanhart syndrome: Report of a case with a novel mutation of tyrosine aminotransferase [3]

Journal of Dermatological Science

Volumn 41, Issue 1, 2006, Pages 82-84

  Minami Hori, M ^a   Ishida Yamamoto, A ^a   Katoh, N ^b   Takahashi, H ^a   Iizuka, H ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b Wakkanai General Hospital   (Japan)

Author keywords

Mutation; Richner Hanhart syndrome; Tyrosine aminotransferase (TAT) gene; Tyrosine phenylalanine diet

Indexed keywords

4 HYDROXYPHENYLACETIC ACID; 4 HYDROXYPHENYLPYRUVIC ACID; GENOMIC DNA; PHENYLALANINE; PYRUVIC ACID DERIVATIVE; TYROSINE; TYROSINE AMINOTRANSFERASE; UNCLASSIFIED DRUG;

CATARACT; CLINICAL FEATURE; DIET RESTRICTION; ELECTRON MICROSCOPY; GAS CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HYPERKERATOSIS; KERATINOCYTE; LETTER; MASS SPECTROMETRY; OPHTHALMOLOGY; PARAKERATOSIS; PRIORITY JOURNAL; TYROSINEMIA;

AMINO ACID SEQUENCE; BASE SEQUENCE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; TYROSINE TRANSAMINASE; TYROSINEMIAS;

EID: 30444439563     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2005.10.007     Document Type: Letter

References (10)

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