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Paper Details

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Exp Dermatol
19
2019
AR disorders, EB, EB candidate genes, SNP, STR, autosomal recessive (AR) traits, deep, epidermolysis bullosa, genome-wide single nucleotide polymorphism, short tandem repeat, single nucleotide polymorphism
Author NameAffiliation
Jonathan P BradfieldCenter for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia
Cecilia E KimCenter for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia
Hakon HakonarsonPerelman School of Medicine, University of Pennsylvania
Hakon HakonarsonCenter for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia
Hakon HakonarsonPerelman School of Medicine, University of Pennsylvania
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