Literature DB >> 8884286

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).

J M Rozet1, S Gerber, I Perrault, A Camuzat, P Calvas, E Viegas-Pequignot, D Molina-Gomes, D Le Paslier, I Chumakov, A Munnich, J Kaplan.   

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Year:  1996        PMID： 8884286     DOI： 10.1006/geno.1996.0508

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


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  5 in total

1.  Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Authors:  R Vargas-Poussou; D Feldmann; M Vollmer; M Konrad; L Kelly; L P van den Heuvel; L Tebourbi; M Brandis; L Karolyi; S C Hebert; H H Lemmink; G Deschênes; F Hildebrandt; H W Seyberth; L M Guay-Woodford; N V Knoers; C Antignac
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

2.  Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Authors:  J M Rozet; S Gerber; I Ghazi; I Perrault; D Ducroq; E Souied; A Cabot; J L Dufier; A Munnich; J Kaplan
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

Authors:  L M Boon; P Brouillard; A Irrthum; L Karttunen; M L Warman; R Rudolph; J B Mulliken; B R Olsen; M Vikkula
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Authors:  E Boye; G Mollet; L Forestier; L Cohen-Solal; L Heidet; P Cochat; J P Grünfeld; J B Palcoux; M C Gubler; C Antignac
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

5.  Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.

Authors:  Yu Zhou; Siyu Tao; Hui Chen; Lulin Huang; Xiong Zhu; Youping Li; Zhili Wang; He Lin; Fang Hao; Zhenglin Yang; Liya Wang; Xianjun Zhu
Journal:  PLoS One       Date:  2014-03-14       Impact factor: 3.240
  5 in total

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