High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation

Journal of Dermatological Science

Volumn 51, Issue 1, 2008, Pages 62-65

  Umekoji, Ayano ^a   Fukai, Kazuyoshi ^a   Kasama, Takeshi ^b   Yokoi, Toshiaki ^a   Saito, Mika ^a   Tsuruhara, Akitoshi ^a   Ishii, Masamitsu ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Cholesterol; Congenital genodermatosis; Ichthyosis

Indexed keywords

7 DEHYDROCHOLESTEROL;

BIOCHEMISTRY; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHONDRODYSPLASIA PUNCTATA; CONRADI HUNERMANN HAPPLE SYNDROME; DNA EXTRACTION; DNA POLYMORPHISM; FEMALE; GENE SEQUENCE; GENOMICS; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LETTER; MISSENSE MUTATION; MUTAGENESIS; NEWBORN; PATHOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; CHOLESTADIENOLS; CHONDRODYSPLASIA PUNCTATA; FEMALE; HUMANS; INFANT, NEWBORN; MODELS, MOLECULAR; MUTATION, MISSENSE; STEROID ISOMERASES;

EID: 42749095687     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2008.02.005     Document Type: Letter

References (9)

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