Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

Author:

Parry David A.,Toomes Carmel,Bida Lina,Danciger Michael,Towns Katherine V.,McKibbin Martin,Jacobson Samuel G.,Logan Clare V.,Ali Manir,Bond Jacquelyn,Chance Rebecca,Swendeman Steven,Daniele Lauren L.,Springell Kelly,Adams Matthew,Johnson Colin A.,Booth Adam P.,Jafri Hussain,Rashid Yasmin,Banin Eyal,Strom Tim M.,Farber Debora B.,Sharon Dror,Blobel Carl P.,Pugh Edward N.,Pierce Eric A.,Inglehearn Chris F.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference41 articles.

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2. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy;Maugeri;Am. J. Hum. Genet.,2000

3. The ABCA4 gene in autosomal recessive cone-rod dystrophies;Ducroq;Am. J. Hum. Genet.,2002

4. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy;Hameed;J. Med. Genet.,2003

5. CORD9 a new locus for arCRD: Mapping to 8p11, estimation of frequency, evaluation of a candidate gene;Danciger;Invest. Ophthalmol. Vis. Sci.,2001

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