Watkins et al5 described an Italian family with analbuminemia, a very rare inherited syndrome in which the subjects produce little or no albumin because of mutation in the albumin gene.
A nucleotide insertion and frameshift cause analbuminemia in an Italian family.
is a very rare autosomal recessive disorder in which serum albumin is very low.
Hirose M, Ohgushi H, Kawase M, et al.Transplantation of hepatocytes cultured on hydorxyapatite into Nagase analbuminemia
Over the past decades several cases of genetic polymorphisms, described in peer-reviewed papers and listed in the analbuminemia
register (2), have been characterized as representing site-specific mutations, splice-site mutations, or frame-shift mutations.
(MIM 103600) is a rare autosomal recessive disorder characterized by the absence or low concentrations of circulating albumin, ranging from 0.01 to 1000 mg/L (1-3).
is a rare autosomal recessive disorder characterized by the absence or very low concentrations of serum albumin (HSA) (1).
(MIM 103600) is a rare, inherited condition characterized by mild symptoms, including low blood pressure, slight edema, and fatigue (1).
is a rare autosomal recessive disorder in which albumin, which usually accounts for approximately one-half of the total protein in serum and extravascular spaces, is either absent or drastically reduced (1).
This comprises the hypoalbuminemia of severe NTI (still a controversial area in regard to the value of thyroid function tests) and the rare conditions of analbuminemia
, familial dysalbuminemic hyperthyroxinemia, and the presence in serum of strongly binding [T.sub.4] or [T.sub.3] autoantibodies.
This site contains a complete current table of published albumin mutants; a table of information about published cases of analbuminemia
; references to other databases with the structures, amino acid sequences, and gene sequences of albumins from >13 species; and citations for recent articles of interest about albumin.
is a rare recessive inherited disorder characterized by an absence or very low concentrations of serum albumin (1, 2).