Condition: Platelet Glycoprotein IV Deficiency


rs121918035 in CD36 gene and Platelet Glycoprotein IV Deficiency PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.

PMID 11950861 2002 Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency.

PMID 23966019 2013 Studies on CD36 deficiency in South China: Two cases demonstrating the clinical impact of anti-CD36 antibodies.

PMID 25330908 2015 Incidence and molecular basis of CD36 deficiency in Shanghai population.

PMID 16493488 2006 Two sibling cases of hydrops fetalis due to alloimmune anti-CD36 (Nak a) antibody.

PMID 25798958 2015 Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects.

PMID 11499670 2001 Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man.

PMID 11352982 2001 Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations.

PMID 26528880 2016 Genetic variations of CD36 and low platelet CD36 expression - a risk factor for lipemic plasma donation in Taiwanese apheresis donors.

PMID 10946357 2000 Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol.

PMID 7515716 1994 Identification of molecular defects in a subject with type I CD36 deficiency.

PMID 12971464 2002 Polymorphisms of CD36 in Thai malaria patients.

PMID 8696942 1996 A single nucleotide insertion in codon 317 of the CD36 gene leads to CD36 deficiency.

PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.

PMID 7686693 1993 A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency.

PMID 11019968 2000 Phenotype-genotype correlation in CD36 deficiency types I and II.