Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2931-2934

  Verhagen, Judith M A ^a   Huijmans, Jan G ^a   Williams, Monique ^a   van Ruyven, Rutger L J ^b   Bergen, Arthur A B ^c,d   Wouters, Cokkie H ^a   Brooks, Alice S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Sint Franciscus Gasthuis ^*  (Netherlands)

^c NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

5p13.3 deletion; AMACR; Incidental finding; Microarray analysis; Oculocutaneous albinism

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; GENOMIC DNA; MELANIN;

2 METHYLACYL COENZYME A RACEMASE DEFICIENCY; ARTICLE; CASE REPORT; CHROMOSOME 5P; DNA EXTRACTION; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; GENE; GENE DELETION; GENETIC ANALYSIS; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INCIDENTAL FINDING; INFANT; MALE; MASS SPECTROMETRY; MELANOGENESIS; MUTATIONAL ANALYSIS; OCA GENE; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SLC45A2 GENE;

ALBINISM, OCULOCUTANEOUS; CHROMOSOMES, HUMAN, PAIR 5; FACIES; HOMOZYGOTE; HUMANS; INCIDENTAL FINDINGS; INFANT; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RACEMASES AND EPIMERASES; SEQUENCE DELETION;

EID: 84867877330     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35611     Document Type: Article

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