Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

Human Molecular Genetics

Volumn 11, Issue 7, 2002, Pages 833-840

  Hamada, Takahiro ^a,b   Irwin McLean, W H ^c   Ramsay, Michele ^d   Ashton, Gabrielle H S ^a   Nanda, Arti ^e   Jenkins, Trefor ^d   Edelstein, Isobel ^d   South, Andrew P ^a   Bleck, Oliver ^a   Wessagowit, Vesarat ^a   Mallipeddi, Rajeev ^a   Orchard, Guy E ^a   Wan, Hong ^a   Dopping Hepenstal, Patricia J C ^a   Mellerio, Jemima E ^a   Whittock, Neil V ^c   Munro, Colin S ^f   Van Steensel, Maurice A M ^g   Steijlen, Peter M ^g   Ni, Jian ^h   Zhang, Lurong ⁱ   Hashimoto, Takashi ^b   Eady, Robin A J ^a   McGrath, John A ^a   more..

^a KING'S COLLEGE LONDON   (United Kingdom)

^b KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^e Asad Al Hamad Dermatology Center   (Kuwait)

^f SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h GLAXOSMITHKLINE   (United States)

ⁱ GEORGETOWN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; SCLEROPROTEIN;

ADOLESCENT; ADULT; ANGIOGENESIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASEMENT MEMBRANE; CHILD; CHROMOSOME 1Q; CHROMOSOME MAP; CHROMOSOME MARKER; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DNA SEQUENCE; FAMILY; FIBROBLAST CULTURE; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GEOGRAPHY; HOMOZYGOSITY; HUMAN; LIPOID PROTEINOSIS; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECOMBINANT GENE; SCAR FORMATION; SCORING SYSTEM; SIBLING; VASCULAR DISEASE; WOUND HEALING;

EID: 18344392451     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.7.833     Document Type: Article

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