Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene.
نویسندگان
چکیده
Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. Nucleic Acids Res 2002;30:e57. 30. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001;17:439–74. 31. Cha RS, Thilly WG. Specificity, efficiency, and fidelity of PCR. PCR Methods Appl 1993;3:S18–29. 32. Dehainault C, Lauge A, Caux-Moncoutier V, Pages-Berhouet S, Doz F, Desjardins L, et al. Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene. Nucleic Acids Res 2004;32:e139.
منابع مشابه
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene
INTRODUCTION Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia...
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BACKGROUND Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia. METHODS We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron s...
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Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations within the albumin gene have been found to cause the trait. In our continuing study of the molecular g...
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ورودعنوان ژورنال:
- Clinical chemistry
دوره 51 7 شماره
صفحات -
تاریخ انتشار 2005