An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

International Journal of Dermatology

Volumn 49, Issue 9, 2010, Pages 1031-1033

  Sakai, Kaori ^a   Akiyama, Masashi ^a   Yanagi, Teruki ^a   Nampoothiri, Sheela ^b   Mampilly, Tony ^c   Sunitha, V ^b   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^c PVS Memorial Hospital   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; ANTICONVULSIVE AGENT; ASPARTIC ACID;

ALLELE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; EXON; EYE FUNDUS; FEMALE; GENE MUTATION; GENETIC CODE; HUMAN; HYPERKERATOSIS; HYPERTELORISM; ICHTHYOSIS; INDIAN; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PHOTOPHOBIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; QUADRIPLEGIA; SEIZURE; SJOEGREN LARSSON SYNDROME; SYMPTOMATOLOGY; WHITE MATTER;

ALDEHYDE OXIDOREDUCTASES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATTLE; CHILD, PRESCHOOL; EXONS; FEMALE; HUMANS; INFANT; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RATS; SEQUENCE ALIGNMENT; SJOGREN-LARSSON SYNDROME;

EID: 77956139641     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2010.04482.x     Document Type: Article

References (10)

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