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Utility of whole‐exome sequencing in detecting novel compound heterozygous mutations in COL 7A1 among families with severe recessive dystrophic epidermolysis bullosa in India – implications on diagnosis, prognosis and prenatal testing
Author(s) -
Mahajan R.,
Vellarikkal S.K.,
Handa S.,
Verma A.,
Jayarajan R.,
Kumar A.,
De D.,
Kaur J.,
Panigrahi I.,
Vineeth V.S.,
Sivasubbu S.,
Scaria V.
Publication year - 2018
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.14909
Subject(s) - sanger sequencing , exome sequencing , medicine , compound heterozygosity , genetics , mutation , genomic sequencing , exome , computational biology , gene , genome , biology