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Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome
Author(s) -
Jan A
Publication year - 2012
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.1399-0004.2012.01888.x
Subject(s) - etiology , exon , genetics , snp , mutation , null allele , protein subunit , medicine , allele , biology , gene , single nucleotide polymorphism , genotype
Compound inheritance of a low‐frequency regulatory SNP and a rare null mutation in exon‐junction complex subunit RBM8A causes TAR syndrome
Albers CA et al. (2012)
Nature Genetics 44(4): 435–439.