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http://scihub22266oqcxt.onion/ 1905879/?report=reader!1683219!1905879     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 1991 ; 49 (1): 199-206 Nephropedia Template TP {{tp|p=1905879|t=1991. Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism |pdf=|usr=}}{{1905879}} gab.com Text Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=1905879 #FOAvip Mutations in the gene for the pigment-producing enzyme tyrosinase are responsible for type IA (tyrosinase-negative) oculocutaneous albinism (OCA). Most reported mutations have been single base substitutions. We now report three different frameshift mutations in three unrelated individuals with type IA OCA. The first individual has a single base deletion within a series of five guanidines, resulting in a premature stop codon in exon I on one allele and a missense mutation at codon 382 in exon III on the homologous allele. The second individual is a genetic compound of two separate frameshift mutations, including both the same exon I single base deletion found in the first individual and a deletion of a thymidine-guanidine pair, within the sequence GTGTG, forming a termination codon (TAG) in exon I on the homologous allele. The third individual has a single base insertion in exon I on one allele and a missense mutation at codon 373 in exon III on the homologous allele. The two missense mutations occur within the copper Bbinding region and may interfere with either copper binding to the enzyme or oxygen binding to the copper. These five different mutations disrupt tyrosinase function and are associated with a total lack of melanin biosynthesis. Twit Text FOAVip Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=1905879 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=1905879 #FOAvip English Wikipedia <ref>{{Cite pmid|1905879}}</ref> Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism #MMPMID1905879 Oetting WS; Mentink MM; Summers CG; Lewis RA; White JG; King RA Am J Hum Genet 1991[Jul]; 49 (1): 199-206 PMID1905879show ga Mutations in the gene for the pigment-producing enzyme tyrosinase are responsible for type IA (tyrosinase-negative) oculocutaneous albinism (OCA). Most reported mutations have been single base substitutions. We now report three different frameshift mutations in three unrelated individuals with type IA OCA. The first individual has a single base deletion within a series of five guanidines, resulting in a premature stop codon in exon I on one allele and a missense mutation at codon 382 in exon III on the homologous allele. The second individual is a genetic compound of two separate frameshift mutations, including both the same exon I single base deletion found in the first individual and a deletion of a thymidine-guanidine pair, within the sequence GTGTG, forming a termination codon (TAG) in exon I on the homologous allele. The third individual has a single base insertion in exon I on one allele and a missense mutation at codon 373 in exon III on the homologous allele. The two missense mutations occur within the copper Bbinding region and may interfere with either copper binding to the enzyme or oxygen binding to the copper. These five different mutations disrupt tyrosinase function and are associated with a total lack of melanin biosynthesis. |Albinism, Oculocutaneous/*enzymology/genetics[MESH] |Base Sequence[MESH] |Chromosome Deletion[MESH] |Codon[MESH] |Frameshift Mutation/*genetics[MESH] |Gene Amplification[MESH] |Hair/enzymology/ultrastructure[MESH] |Humans[MESH] |Melanocytes/enzymology[MESH] |Molecular Sequence Data[MESH]Three different frameshift mutations of the tyrosinase gene in type IA(epmc).pdf DeepDyve Pubget Overpricing