Detection and molecular diagnosis of a new case of congenital analbuminaemia.
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DOI: 10.1016/j.medcli.2019.10.013
Abstract: INTRODUCTION AND OBJECTIVES Congenital analbuminaemia (CCA) (MIM #616000) is an autosomal recessive disorder (prevalence < 1/106) caused by defects in the ALB gene leading to absence or severe reduction of albuminaemia. This paper describes a… read more here.
Keywords: detection molecular; analbuminaemia; case; molecular diagnosis ... See more keywords