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Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 49 - 52
The prevalence of X-linked ocular albinism (XLOA) is about 1 in 60,000 males. It affects only the eyes; the color of the skin and hairs are normal. Patients... 
X-linked | Albinism | Ocular | Oculocutaneous | MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | GENETICS & HEREDITY | CELL BIOLOGY
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2018, Volume 176, Issue 7, pp. 1587 - 1593
Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined... 
albinism, ocular albinism, OA1 | GPR143 | contiguous gene deletion syndrome | SHROOM2 | male infertility, oligozoospermia, asthenozoospermia, X chromosome | hearing loss | TBL1X | albinism, ocular albinism, OA1, GPR143, hearing loss, TBL1X, male infertility, oligozoospermia, asthenozoospermia, X chromosome, SHROOM2 | ocular albinism | oligozoospermia | X chromosome | CLINICAL-FEATURES | PREVALENCE | male infertility | albinism | DELETION | GENE | CLONING | GENETICS & HEREDITY | asthenozoospermia | DEAFNESS | MUTATIONS | TYPE-1 | OA1 | Albinism, Ocular - pathology | Infertility - pathology | Humans | Middle Aged | Genetic Diseases, X-Linked - complications | Male | Infertility - genetics | Gene Deletion | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Albinism, Ocular - genetics | Transducin - genetics | Membrane Proteins - genetics | Hearing Loss, Sensorineural - pathology | Hearing Loss, Sensorineural - genetics | Infertility - complications | Albinism, Ocular - complications | Membrane Glycoproteins - genetics | Pedigree | Genetic Diseases, X-Linked - pathology | Aged | Hearing Loss, Sensorineural - complications | Mutation | Albinism | Infertility | Genes | Hearing loss | Hearing | Clonal deletion | Ocular albinism | Hearing protection | Gene deletion | Hearing impairment | Pigmentation | Index Medicus
Journal Article
Journal Article
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 04/2017, Volume 34, Issue 2, p. 224
To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism. Peripheral blood samples were collected from the proband and his parents.... 
Albinism, Ocular - genetics | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Infant | Male | Membrane Glycoproteins - genetics | Base Sequence | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Mutation
Journal Article
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 07/2010, Volume 38, Issue 5, pp. 489 - 495
Background:  This study was undertaken to analyse the OA1 gene (GPR143) and its involvement in a Spanish family presenting with nystagmus, a common symptom of... 
X-linked | Ocular albinism | OA1 | PROTEIN | OPHTHALMOLOGY | MUTATIONS | TYPE-1 | Albinism, Ocular - genetics | Amino Acid Sequence | Humans | Molecular Sequence Data | Family Health | Male | Membrane Glycoproteins - genetics | Spain | Chromosomes, Human, X | Point Mutation | Pedigree | Gene Deletion | Adult | Female | Eye Proteins - genetics | Genetic research | Nucleases | Codon | Albinism | Index Medicus
Journal Article
by Wang, Y and Guo, X and Wei, A and Zhu, W and Li, Wei and Lian, Shi
European Journal of Ophthalmology, ISSN 1120-6721, 2009, Volume 19, Issue 1, pp. 124 - 128
Journal Article
Dermatology Online Journal, 05/2008, Volume 14, Issue 5, pp. 4 - 4
A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules. Macromelanosomes... 
Albinism, Ocular - genetics | Diagnosis, Differential | Humans | Albinism, Ocular - diagnosis | Adult | Genetic Diseases, X-Linked - genetics | Male | Genetic Diseases, X-Linked - diagnosis | Genetic Linkage | Index Medicus
Journal Article
Journal of Visual Impairment & Blindness, ISSN 0145-482X, 11/2018, Volume 112, Issue 6, pp. 683 - 700
Introduction It is important to understand albinism, since it is a disorder associated with visual impairment, predisposition to malignant melanomas, and... 
GRISCELLI-SYNDROME | PROTEIN-1 TRP-1 | PINK-EYED DILUTION | LINKED OCULAR ALBINISM | OXIDASE ACTIVITY | REHABILITATION | ENDOPLASMIC-RETICULUM | BROWN OCULOCUTANEOUS ALBINISM | HUMAN TYROSINASE | P-GENE | HERMANSKY-PUDLAK-SYNDROME | Hair | Genotype & phenotype | Enzymes | Albinism | Visual impairment | Genes | Blindness | Skin | Mutation | Endoplasmic reticulum | Quality of life
Journal Article
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