Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

European Journal of Human Genetics

Volumn 18, Issue 1, 2010, Pages 26-32

  Lin, Ming Wei ^a,b   Lee, Ding Dar ^a,b   Liu, Tze Tze ^a   Lin, Yong Feng ^a   Chen, Shang Yi ^a   Huang, Chih Cheng ^a   Weng, Hui Ying ^a   Liu, Yu Fen ^a   Tanaka, Akio ^c   Arita, Ken ^c,d   Lai Cheong, Joey ^c   Palisson, Francis ^e   Chang, Yun Ting ^a,b   Wong, Chu Kwan ^b   Matsuura, Isao ^f   McGrath, John A ^c   Tsai, Shih Feng ^a,f  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d HOKKAIDO UNIVERSITY   (Japan)

^e UNIVERSIDAD DEL DESARROLLO   (Chile)

^f NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

genetic heterogeneity; haplotype; IL31RA; OSMR; Primary cutaneous amyloidosis

Indexed keywords

FIBRONECTIN; INTERLEUKIN 31; INTERLEUKIN 6 RECEPTOR; ONCOSTATIN M RECEPTOR BETA; IL31RA PROTEIN, HUMAN; INTERLEUKIN RECEPTOR; MUTANT PROTEIN; OSMR PROTEIN, HUMAN;

ARTICLE; CHROMOSOME 5; CONTROLLED STUDY; FAMILIAL AMYLOIDOSIS; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTERLEUKIN 31 RECEPTOR A GENE; INTRACELLULAR SIGNALING; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; PEDIGREE; POINT MUTATION; PREVALENCE; PRIMARY CUTANEOUS AMYLOIDOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; TAIWAN; ALLELE; CHILE; GENETIC LINKAGE; GENETICS; MOLECULAR GENETICS; MUTATION; PHYLOGENY; REPRODUCIBILITY; SKIN DISEASE;

ALLELES; AMYLOIDOSIS, FAMILIAL; BASE SEQUENCE; CHILE; DNA MUTATIONAL ANALYSIS; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; ONCOSTATIN M RECEPTOR BETA SUBUNIT; PHYLOGENY; RECEPTORS, INTERLEUKIN; REPRODUCIBILITY OF RESULTS; SKIN DISEASES; TAIWAN;

EID: 77449129552     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.135     Document Type: Article

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