Literature DB >> 3128473

Infantile hypophosphatasia--linkage with the RH locus.

B N Chodirker1, J A Evans, M Lewis, G Coghlan, E Belcher, S Philipps, L E Seargeant, C Sus, C R Greenberg.   

Abstract

Linkage analysis of six nuclear families with infantile hypophosphatasia which were informative for the Rh blood group locus was performed. The maximum combined lod score was 4.76 with the recombinant distance (theta) of 0.04. These preliminary data provide evidence for linkage between the genes for infantile hypophosphatasia and the Rh blood group and provisionally assign the gene locus for infantile hypophosphatasia (designated HOPS) to chromosome 1p.

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Year:  1987        PMID： 3128473     DOI： 10.1016/0888-7543(87)90056-5

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  9 in total

1.  Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.

Authors:  Edward C W Leung; Aizeddin A Mhanni; Martin Reed; Michael P Whyte; Hal Landy; Cheryl R Greenberg
Journal:  JIMD Rep       Date:  2013-04-12

2.  Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.

Authors:  K N Fedde; M P Whyte
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

3.  Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.

Authors:  C R Greenberg; J A Evans; S McKendry-Smith; S Redekopp; J C Haworth; R Mulivor; B N Chodirker
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

4.  Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts.

Authors:  K N Fedde; D E Cole; M P Whyte
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

5.  Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

Authors:  M J Weiss; K Ray; M D Fallon; M P Whyte; K N Fedde; M A Lafferty; R A Mulivor; H Harris
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

6.  A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Authors:  M J Weiss; D E Cole; K Ray; M P Whyte; M A Lafferty; R A Mulivor; H Harris
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

7.  Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

Authors:  P S Henthorn; M Raducha; K N Fedde; M A Lafferty; M P Whyte
Journal:  Proc Natl Acad Sci U S A       Date:  1992-10-15       Impact factor: 11.205

8.  Reduced bone mineral density and low parathyroid hormone levels in patients with the adult form of hypophosphatasia.

Authors:  C Wüster; R Ziegler
Journal:  Clin Investig       Date:  1992-07

9.  Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.

Authors:  B N Chodirker; J A Evans; L E Seargeant; M S Cheang; C R Greenberg
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025
  9 in total

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