Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism

Journal of Dermatological Science

Volumn 62, Issue 2, 2011, Pages 124-127

  Wei, Aihua ^a,b   Yang, Xiumin ^a   Lian, Shi ^c   Li, Wei ^b  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b INSTITUTE OF GENETICS AND DEVELOPMENTAL BIOLOGY   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Genetic testing; Hermansky Pudlak syndrome; Oculocutaneous albinism; Previously unidentified allele

Indexed keywords

GENOMIC DNA; PROTEIN HPS1; PROTEIN OCA2; PROTEIN SLC45A2; PROTEIN TYR; PROTEIN TYRP1; TUMOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; FEMALE; GENE IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; NEWBORN; OCULOCUTANEOUS ALBINISM; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STRATEGIC PLANNING;

ADOLESCENT; ADULT; ALBINISM, OCULOCUTANEOUS; ALLELES; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; POLYMORPHISM, GENETIC;

EID: 79954570718     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2011.02.009     Document Type: Article

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