Large contiguous gene deletions in Sjögren-Larsson syndrome

Molecular Genetics and Metabolism

Volumn 104, Issue 3, 2011, Pages 356-361

  Engelstad, Holly ^a   Carney, Gael ^a   S'Aulis, Dana ^a   Rise, Janae ^a   Sanger, Warren G ^a,b   Rudd, M Katharine ^c   Richard, Gabriele ^d   Carr, Christopher W ^e   Abdul Rahman, Omar A ^e   Rizzo, William B ^a,b  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d GENEDX   (United States)

^e UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

Author keywords

ALDH3A1; Fatty aldehyde; Ichthyosis; Mutation; SLC47A1; ULK2

Indexed keywords

ADULT; ALDH3A1 GENE; ALDH3A2 GENE; ALLELE; ARTICLE; CASE REPORT; CORNEA DISEASE; DISEASE CARRIER; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE; GENE DELETION; GENE LOCUS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; MEDICAL SPECIALIST; MICROARRAY ANALYSIS; MISSENSE MUTATION; MOBILIZATION; MOTOR PERFORMANCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SJOEGREN LARSSON SYNDROME;

ALDEHYDE OXIDOREDUCTASES; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; DNA PRIMERS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MICROARRAY ANALYSIS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SJOGREN-LARSSON SYNDROME; YOUNG ADULT;

EID: 82455208973     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.05.015     Document Type: Article

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