PMID: 9434945Jan 22, 1998Paper

Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1

Mammalian Genome : Official Journal of the International Mammalian Genome Society
N F BoxR A Sturm

Abstract

The complete 24,667 nucleotide sequence spanning the human TYRP1 gene has been determined from the inserts of two overlapping lambda clones. A LINE-1 repeat element is immediately adjacent to and may demarcate the immediate 5' promoter region of the gene. A search for polymorphism within the seven TYRP1 coding exons has been performed by an RNase mismatch detection procedure. Analysis of the TYRP1 gene in 100 Caucasian individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigmented phenotype of two 9p- syndrome patients.

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Citations

Nov 20, 1998·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·R A SturmM Ramsay
Apr 20, 2001·Biochimica Et Biophysica Acta·K RothbarthD Werner
May 20, 2008·Nature Genetics·Patrick SulemKari Stefansson
Dec 11, 1999·Current Opinion in Pediatrics·W S Oetting
Aug 13, 2011·Pigment Cell & Melanoma Research·Andrzej SlominskiJohn Pawelek
Nov 6, 2007·Orphanet Journal of Rare Diseases·Karen GrønskovKaren Brondum-Nielsen
Aug 6, 2014·BioMed Research International·Balu Kamaraj, Rituraj Purohit
Dec 12, 2012·Survey of Ophthalmology·Gerassimos LascaratosDavid F Garway-Heath
Mar 16, 2007·Progress in Retinal and Eye Research·Kunal RayMainak Sengupta
Jan 27, 2005·Experimental Eye Research·Kunihiko YamakiTadao Kotani
Feb 18, 2011·Molecular Oncology·Ghanem Ghanem, Journé Fabrice
Sep 24, 2004·Physiological Reviews·Andrzej SlominskiJacobo Wortsman

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