Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism

Molecular Vision

Volumn 17, Issue , 2011, Pages 939-948

  Preising, Markus N ^a,b   Forster, Hedwig ^a   Gonser, Miriam ^a   Lorenz, Birgit ^a,b  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^b JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 143; GLYCINE DEHYDROGENASE (DECARBOXYLATING); MELANOCORTIN 1 RECEPTOR; MONOPHENOL MONOOXYGENASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL NYSTAGMUS; EYE DISEASE; EYE FUNDUS; EYE FUNDUS HYPOPIGMENTATION; FEMALE; G PROTEIN COUPLED RECEPTOR 143 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HAIR COLOR; HUMAN; IRIS; MAJOR CLINICAL STUDY; MALE; MELANOCORTIN RECEPTOR 1 GENE; NUCLEOTIDE SEQUENCE; OCA2 GENE; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; RETINA MACULA HYPOPLASIA; RETINA MACULOPATHY; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN PIGMENTATION; TYROSINASE GENE; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; ALBINISM, OCULAR; ALBINISM, OCULOCUTANEOUS; ALLELES; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EYE; EYE PROTEINS; FEMALE; FUNDUS OCULI; GENES, X-LINKED; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HUMANS; HYPOPIGMENTATION; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; MONOPHENOL MONOOXYGENASE; MUTATION; NYSTAGMUS, CONGENITAL; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR, MELANOCORTIN, TYPE 1; VISUAL ACUITY;

EID: 79955592714     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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