|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2010-6-1
|
|
pubmed:abstractText |
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by the absence of dense (delta)-bodies. There are eight known human HPS GENES (HPS1-HPS8), each leading to a particular clinical HPS subtype. Restrictive lung disease, granulomatous colitis and cardiomyopathy have been described in HPS1 patients.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
1439-3824
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
222
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
168-74
|
|
pubmed:meshHeading |
pubmed-meshheading:20514622-Adult,
pubmed-meshheading:20514622-Age of Onset,
pubmed-meshheading:20514622-Alleles,
pubmed-meshheading:20514622-Bleeding Time,
pubmed-meshheading:20514622-Child,
pubmed-meshheading:20514622-Child, Preschool,
pubmed-meshheading:20514622-Chromosome Deletion,
pubmed-meshheading:20514622-Codon, Nonsense,
pubmed-meshheading:20514622-DNA Mutational Analysis,
pubmed-meshheading:20514622-Exons,
pubmed-meshheading:20514622-Female,
pubmed-meshheading:20514622-Frameshift Mutation,
pubmed-meshheading:20514622-Genotype,
pubmed-meshheading:20514622-Hermanski-Pudlak Syndrome,
pubmed-meshheading:20514622-Heterozygote Detection,
pubmed-meshheading:20514622-Humans,
pubmed-meshheading:20514622-Male,
pubmed-meshheading:20514622-Pedigree,
pubmed-meshheading:20514622-Phenotype,
pubmed-meshheading:20514622-Platelet Function Tests,
pubmed-meshheading:20514622-Sequence Analysis, DNA,
pubmed-meshheading:20514622-Young Adult
|
|
pubmed:year |
2010
|
|
pubmed:articleTitle |
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
|
|
pubmed:affiliation |
Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
