Newborn screening for Hermansky-pudlak syndrome type 3 in Puerto Rico

Journal of Pediatric Hematology/Oncology

Volumn 32, Issue 6, 2010, Pages 448-453

  Torres Serrant, Maribel ^a   Ramirez, Sonia I ^a   Cadilla, Carmen L ^a   Ramos Valencia, Gilberto ^a   Santiago Borrero, Pedro J ^a  

^a UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

Author keywords

Albinism; Bleeding; DNA pooling; Hermansky Pudlak syndrome; Platelets

Indexed keywords

DNA; PROTEIN; PROTEIN HPS3; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CHILD; CONTROLLED STUDY; DNA DETERMINATION; DNA EXTRACTION; EARLY DIAGNOSIS; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; OCULAR ALBINISM; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PUERTO RICO; GENE FREQUENCY; GENETIC SCREENING; GENETICS; HETEROZYGOTE;

GENE FREQUENCY; GENETIC TESTING; HERMANSKI-PUDLAK SYNDROME; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; POLYMERASE CHAIN REACTION; PREVALENCE; PUERTO RICO;

EID: 77955877076     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181e5e1f1     Document Type: Article

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