Clinical utility gene card for: Oculocutaneous albinism

European Journal of Human Genetics

Volumn 22, Issue 8, 2014, Pages 1054-

  Grønskov, Karen ^a   Brøndum Nielsen, Karen ^a   Lorenz, Birgit ^b   Preising, Markus N ^b  

^a International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^b JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; EXON; FAMILY HISTORY; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC CODE; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; LIFESTYLE; MISSENSE MUTATION; NONSENSE MUTATION; NOTE; NUCLEOTIDE SEQUENCE; OCULOCUTANEOUS ALBINISM; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; ALBINISM, OCULOCUTANEOUS; GENETICS; INCIDENCE; MUTATION; PREVALENCE; PROCEDURES; REPRODUCIBILITY; ALLELE; ARTICLE; CHROMOSOME; DIAGNOSTIC PROCEDURE; DISEASE MANAGEMENT; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOTE; MUTATIONAL ANALYSIS; PHENOTYPE; PIGMENTATION; PREVENTION; RISK FACTOR;

ALBINISM, OCULOCUTANEOUS; DIAGNOSIS, DIFFERENTIAL; GENETIC TESTING; HUMANS; INCIDENCE; MUTATION; PREVALENCE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84904656963     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.307     Document Type: Note

References (15)

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