A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome

Journal of Dermatological Science

Volumn 52, Issue 2, 2008, Pages 136-138

  Nakano, Hajime ^a   Akasaka, Eijiro ^a   Rokunohe, Daiki ^a   Yokoyama, Shohei ^b   Toyomaki, Yuka ^a   Umegaki, Noriko ^a   Mitsuhashi, Yoshihiko ^c   Sawamura, Daisuke ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b Namioka   (Japan)

^c TOKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

ALDH3A2; Fatty aldehyde dehydrogenase; Ichthyosis; Mutation; Sj gren Larsson syndrome

Indexed keywords

ALDEHYDE DEHYDROGENASE; GLUTAMIC ACID; GLYCINE;

ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; DNA EXTRACTION; HOSPITAL ADMISSION; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; JAPANESE; LETTER; MALE; MISSENSE MUTATION; PATIENT REFERRAL; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRURITUS; QUADRIPLEGIA; SJOEGREN LARSSON SYNDROME;

ALDEHYDE OXIDOREDUCTASES; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; SJOGREN-LARSSON SYNDROME;

EID: 51249090508     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2008.06.006     Document Type: Letter

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