Compound heterozygous mutations in 2 siblings with hermansky-pudlak syndrome type 1 (HPS1)

Klinische Padiatrie

Volumn 222, Issue 3, 2010, Pages 168-174

  Sandrock, K ^a   Bartsch, I ^a   Rombach, N ^a   Schmidt, K ^a   Nakamura, L ^a   Hainmann, I ^a   Busse, A ^a   Zieger, B ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Hermansky Pudlak Syndrome 1; Novel mutation; Platelet function analyses; Vesicle trafficking

Indexed keywords

MEMBRANE PROTEIN; PROTEIN HPS1; UNCLASSIFIED DRUG; STOP CODON;

ADULT; ARTICLE; BLEEDING; BLEEDING TIME; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EPISTAXIS; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE DELETION; GERMANY; HEMATOMA; HETEROZYGOSITY; HUMAN; MALE; MENORRHAGIA; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OCULAR ALBINISM; PHENOTYPE; RECURRENT DISEASE; RUSSIAN FEDERATION; SCHOOL CHILD; SEQUENCE ANALYSIS; THROMBOCYTE AGGLUTINATION; THROMBOCYTE AGGREGATION; THROMBOCYTE RELEASE REACTION; TOOTH EXTRACTION; ALLELE; BLOOD; BLOOD CLOTTING PARAMETERS; CHROMOSOME DELETION; DNA SEQUENCE; EXON; GENETICS; GENOTYPE; HETEROZYGOTE DETECTION; ONSET AGE; PEDIGREE; PRESCHOOL CHILD; STOP CODON; YOUNG ADULT;

ADULT; AGE OF ONSET; ALLELES; BLEEDING TIME; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HERMANSKI-PUDLAK SYNDROME; HETEROZYGOTE DETECTION; HUMANS; MALE; PEDIGREE; PHENOTYPE; PLATELET FUNCTION TESTS; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 77953159423     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0030-1249628     Document Type: Article

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