Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: The example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

Human Genetics

Volumn 100, Issue 2, 1997, Pages 230-235

  Scheffer, Hans ^a   Stulp, Rein P ^a   Verlind, Edwin ^a   Van der Meulen, Martin D ^a   Bruckner Tuderman, Leena ^b   Gedde Dahl Jr , Tobias ^c   Te Meerman, Gerard J ^a   Sonnenberg, Arnoud ^d   Buys, Charles H C M ^a   Jonkman, Marcel F ^e  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d NETHERLANDS CANCER INSTITUTE   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; COLLAGEN; DNA MARKER; MICROSATELLITE DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; PEMPHIGOID; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AGED; CHILD; COLLAGEN; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC MARKERS; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; NETHERLANDS; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 0030839658     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050496     Document Type: Article

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