|
Volumn 152, Issue 1, 2005, Pages 191-193
|
X-linked recessive ichthyosis in a girl: Strategy for identifying the causal mechanism [13]
|
Author keywords
[No Author keywords available]
|
Indexed keywords
ARYLSULFATASE;
ADOLESCENT;
ALLELE;
CASE REPORT;
CHROMOSOME STRUCTURE;
CLINICAL FEATURE;
CONSANGUINEOUS MARRIAGE;
DNA DETERMINATION;
FAMILIAL DISEASE;
FAMILY HISTORY;
FEMALE;
FLUORESCENCE IN SITU HYBRIDIZATION;
GENE DELETION;
HETEROZYGOTE;
HUMAN;
ICHTHYOSIS;
INCIDENCE;
LETTER;
METABOLIC DISORDER;
MICROSATELLITE MARKER;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
SKIN MANIFESTATION;
UNIPARENTAL DISOMY;
X CHROMOSOME INACTIVATION;
X CHROMOSOME RECESSIVE INHERITANCE;
CHROMOSOME ANALYSIS;
ENZYME BLOOD LEVEL;
FACE DYSMORPHIA;
FATHER;
MARKER GENE;
MENTAL DEFICIENCY;
ADOLESCENT;
FEMALE;
HUMANS;
ICHTHYOSIS, X-LINKED;
MALE;
PEDIGREE;
STERYL-SULFATASE;
|
EID: 19944432250
PISSN: 00070963
EISSN: None
Source Type: Journal
DOI: 10.1111/j.1365-2133.2005.06367.x Document Type: Letter |
Times cited : (13)
|
References (10)
|