Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency [1]

Clinical Endocrinology

Volumn 59, Issue 2, 2003, Pages 263-264

  Gonzalez Huerta L M ^a   Riviera Vega, M R ^a   Kofman Alfeuro, S H ^a   Cuevas Covarrubias, S A ^a  

^a HOSPITAL GENERAL DE MÉXICO   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

STERYL SULFATASE;

BINDING SITE; CASE REPORT; CLINICAL FEATURE; DNA DETERMINATION; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME SUBSTRATE COMPLEX; GENE DELETION; GENE LOCATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; ICHTHYOSIS; LETTER; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PEDIGREE ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ARYLSULFATASES; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; ICHTHYOSIS, X-LINKED; MALE; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; STERYL-SULFATASE;

EID: 0041664873     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2003.17851.x     Document Type: Letter

References (15)

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