The molecular basis of lipoid proteinosis: Mutations in extracellular matrix protein 1

Experimental Dermatology

Volumn 16, Issue 11, 2007, Pages 881-890

  Chan, Ien ^a   Liu, Lu ^a   Hamada, Takahiro ^b   Sethuraman, Gomathy ^c   Mcgrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Basement membrane; Brain; Genodermatosis; Glycoprotein; Oral; Skin

Indexed keywords

AUTOANTIBODY; AUTOANTIGEN; COLLAGEN TYPE 4; FIBULIN; GELATINASE B; MESSENGER RNA; PERLECAN; SCLEROPROTEIN;

AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; CHROMOSOME 1Q; COGNITIVE DEFECT; CUTANEOUS PARAMETERS; DERMIS; DYSPNEA; DYSTONIA; EPILEPSY; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE OVEREXPRESSION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HOARSENESS; HUMAN; IMMUNOHISTOCHEMISTRY; INHERITANCE; LICHEN SCLEROSUS ET ATROPHICUS; LIPOID PROTEINOSIS; MALIGNANT NEOPLASTIC DISEASE; MENTAL DISEASE; MOLECULAR MECHANICS; NEUROLOGIC DISEASE; NONSENSE MUTATION; PATHOGENESIS; PHOTOAGING; PHOTOSENSITIVITY; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; PRURITUS; REVIEW; SKIN SCAR; STRIDOR; THICKNESS; UPPER RESPIRATORY TRACT INFECTION;

AUTOANTIBODIES; EXTRACELLULAR MATRIX PROTEINS; HUMANS; LIPOID PROTEINOSIS OF URBACH AND WIETHE; MUTATION; SKIN;

EID: 35348905481     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2007.00608.x     Document Type: Review

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