Literature DB >> 7902163

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.

R Morell1, T B Friedman, J H Asher.   

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Year:  1993        PMID： 7902163     DOI： 10.1093/hmg/2.9.1487

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  7 in total

Review 1.  HESX1 and Septo-Optic Dysplasia.

Authors:  Mehul Tulsidas Dattani; Iain Caf Robinson
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

Review 2.  The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Authors:  R Morell; T B Friedman; J H Asher; L G Robbins
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

Authors:  M L Carey; T B Friedman; J H Asher; J W Innis
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

4.  A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Authors:  F A Hol; B C Hamel; M P Geurds; R A Mullaart; F G Barr; R A Macina; E C Mariman
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

5.  Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

Authors:  L A Farrer; K S Arnos; J H Asher; C T Baldwin; S R Diehl; T B Friedman; J Greenberg; K M Grundfast; C Hoth; A K Lalwani
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

6.  Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.

Authors:  A K Lalwani; J R Brister; J Fex; K M Grundfast; B Ploplis; T B San Agustin; E R Wilcox
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

7.  Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes.

Authors:  B W Schäfer; T Czerny; M Bernasconi; M Genini; M Busslinger
Journal:  Nucleic Acids Res       Date:  1994-11-11       Impact factor: 16.971
  7 in total

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