Literature DB >> 1269174

Analbuminemia in an American Indian girl.

H Boman, M Hermodson, C A Hammond, A G Motulsky.   

Abstract

Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus. Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin. The patient's parents were remotely related. The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia. Heterozygotes had subnormal levels of serum albumin. The Gc-locus is closely linked to the structural albumin locus. Gc-protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia. Gc-types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc-locus. These findings suggest a "thalassemia"-like mutation for this disorder.

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Year:  1976        PMID: 1269174     DOI: 10.1111/j.1399-0004.1976.tb01606.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  13 in total

Review 1.  Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review.

Authors:  Bart G P Koot; Roderick Houwen; Dirk-Jan Pot; Jeroen Nauta
Journal:  Eur J Pediatr       Date:  2004-08-06       Impact factor: 3.183

2.  Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats.

Authors:  F Shalaby; D A Shafritz
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

3.  Analbuminaemia: a natural model of metabolic compensatory systems.

Authors:  G Baldo-Enzi; M R Baiocchi; G Vigna; C Andrian; C Mosconi; R Fellin
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  A nucleotide insertion and frameshift cause analbuminemia in an Italian family.

Authors:  S Watkins; J Madison; M Galliano; L Minchiotti; F W Putnam
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-15       Impact factor: 11.205

5.  Paraoxon hydrolysis in human serum mediated by a genetically variable arylesterase and albumin.

Authors:  J Ortigoza-Ferado; R J Richter; S K Hornung; A G Motulsky; C E Furlong
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

6.  Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia.

Authors:  J C Murray; C M Demopulos; R M Lawn; A G Motulsky
Journal:  Proc Natl Acad Sci U S A       Date:  1983-10       Impact factor: 11.205

7.  Splicing mutation in human hereditary analbuminemia.

Authors:  D E Ruffner; A Dugaiczyk
Journal:  Proc Natl Acad Sci U S A       Date:  1988-04       Impact factor: 11.205

8.  Mouse immunoglobulin coding sequences for the heavy-chain variable region arose as repeats of the two short building blocks.

Authors:  S Ohno; K Kato; T Hozumi; T Matsunaga
Journal:  Proc Natl Acad Sci U S A       Date:  1982-01       Impact factor: 11.205

9.  Analbuminemia: three cases resulting from different point mutations in the albumin gene.

Authors:  S Watkins; J Madison; M Galliano; L Minchiotti; F W Putnam
Journal:  Proc Natl Acad Sci U S A       Date:  1994-09-27       Impact factor: 11.205

10.  Original domain for the serum albumin family arose from repeated sequences.

Authors:  S Ohno
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

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