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‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing
Author(s) -
Sutton LM
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01692.x
Subject(s) - exome sequencing , exome , genetics , dysplasia , biology , mutation , dna sequencing , computational biology , gene
Whole‐exome re‐sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia Glazov et al. (2011) PLoS Genetics 7(3):e1002027