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10.1016/j.ajhg.2009.01.006 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2009.01.006 19200527!2668018!19200527     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=19200527&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2009 ; 84 (2): 259-65 Nephropedia Template TP {{tp|p=19200527|t=2009. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta |pdf=|usr=}}{{19200527}} gab.com Text Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=19200527 #FOAvip Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystrophies are genetically heterogeneous with mutations in genes encoding structural, cell-adhesion, and transporter proteins. Using a genome-wide single-nucleotide polymorphism (SNP) haplotype analysis to fine map the locus and a gene-candidate approach, we identified homozygous mutations in the ancient conserved domain protein 4 gene (CNNM4) that either generate a truncated protein or occur in highly conserved regions of the protein. Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis. Twit Text FOAVip Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=19200527 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=19200527 #FOAvip English Wikipedia <ref>{{Cite pmid|19200527}}</ref> Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta #MMPMID19200527 Polok B; Escher P; Ambresin A; Chouery E; Bolay S; Meunier I; Nan F; Hamel C; Munier FL; Thilo B; Megarbane A; Schorderet DF Am J Hum Genet 2009[Feb]; 84 (2): 259-65 PMID19200527show ga Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystrophies are genetically heterogeneous with mutations in genes encoding structural, cell-adhesion, and transporter proteins. Using a genome-wide single-nucleotide polymorphism (SNP) haplotype analysis to fine map the locus and a gene-candidate approach, we identified homozygous mutations in the ancient conserved domain protein 4 gene (CNNM4) that either generate a truncated protein or occur in highly conserved regions of the protein. Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis. |*Mutation[MESH] |Amelogenesis Imperfecta/*genetics[MESH] |Cation Transport Proteins/*genetics[MESH] |Female[MESH] |Gene Duplication[MESH] |Genes, Recessive[MESH] |Humans[MESH] |Male[MESH] |Pedigree[MESH] |Polymorphism, Single Nucleotide[MESH] |Retinal Cone Photoreceptor Cells/pathology[MESH] |Retinal Rod Photoreceptor Cells/pathology[MESH] |Retinitis Pigmentosa/*genetics[MESH]Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesi(epmc).pdf DeepDyve Pubget Overpricing