Literature DB >> 9250856

Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness.

M Meisler1.   

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Year:  1997        PMID： 9250856     DOI： 10.1007/s003359900499

Source DB:  PubMed          Journal:  Mamm Genome        ISSN： 0938-8990            Impact factor:   2.957


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  8 in total

1.  A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

Authors:  I del Castillo; M Villamar; M Sarduy; L Romero; C Herraiz; F J Hernández; M Rodríguez; I Borrás; A Montero; J Bellón; M C Tapia; F Moreno
Journal:  Hum Mol Genet       Date:  1996-09       Impact factor: 6.150

2.  The Gy mutation: another cause of X-linked hypophosphatemia in mouse.

Authors:  M F Lyon; C R Scriver; L R Baker; H S Tenenhouse; J Kronick; S Mandla
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205

3.  Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.

Authors:  T M Strom; F Francis; B Lorenz; A Böddrich; M J Econs; H Lehrach; T Meitinger
Journal:  Hum Mol Genet       Date:  1997-02       Impact factor: 6.150

4.  cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone.

Authors:  L Du; M Desbarats; J Viel; F H Glorieux; C Cawthorn; B Ecarot
Journal:  Genomics       Date:  1996-08-15       Impact factor: 5.736

Review 5.  Inherited hearing defects in mice.

Authors:  K P Steel
Journal:  Annu Rev Genet       Date:  1995       Impact factor: 16.830

6.  A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.

Authors: 
Journal:  Nat Genet       Date:  1995-10       Impact factor: 38.330

7.  The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).

Authors:  P S Rowe; J N Goulding; F Francis; C Oudet; M J Econs; A Hanauer; H Lehrach; A P Read; R C Mountford; T Summerfield; J Weissenbach; W Fraser; M K Drezner; K E Davies; J L O'Riordan
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

8.  Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets.

Authors:  E M Eicher; J L Southard; C R Scriver; F H Glorieux
Journal:  Proc Natl Acad Sci U S A       Date:  1976-12       Impact factor: 11.205
  8 in total

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