Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Journal of Dermatological Science

Volumn 63, Issue 1, 2011, Pages 62-64

  Winge, Mårten C G ^a   Hoppe, Torborg ^b   Liedén, Agne ^c   Nordenskjöld, Magnus ^c   Vahlquist, Anders ^b   Wahlgren, Carl Fredrik ^a   Törmä, Hans ^b   Bradley, Maria ^a,c   Berne, Berit ^b,c  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Filaggrin; Ichthyosis; Mutation; Steroid sulfatase; X linked recessive ichthyosis

Indexed keywords

AGED; CASE REPORT; DRY SKIN; FAMILY HISTORY; GENE; GENE SEQUENCE; GENOTYPE; HUMAN; ICHTHYOSIS VULGARIS; LETTER; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; PRURITUS; STS GENE; X LINKED ICHTHYOSIS;

AGED; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ICHTHYOSIS, X-LINKED; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION; SKIN; STERYL-SULFATASE;

EID: 79957550860     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2011.03.011     Document Type: Letter

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