TY  - GEN
AU  - Morgan,Neil V
AU  - Pasha,Shanaz
AU  - Johnson,Colin A
AU  - Ainsworth,John R
AU  - Eady,Robin A J
AU  - Dawood,Ban
AU  - McKeown,Carole
AU  - Trembath,Richard C
AU  - Wilde,Jonathan
AU  - Watson,Steve P
AU  - Maher,Eamonn R
TI  - A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
SN  - 0002-9297
PY  - 2006///0530
KW  - Adenosine Triphosphate
KW  - metabolism
KW  - Adolescent
KW  - Adult
KW  - Carrier Proteins
KW  - genetics
KW  - Cell Line, Tumor
KW  - Child
KW  - Chromosomes, Human, Pair 19
KW  - Epidermis
KW  - ultrastructure
KW  - Eye
KW  - pathology
KW  - Female
KW  - Frameshift Mutation
KW  - Hermanski-Pudlak Syndrome
KW  - Humans
KW  - Male
KW  - Microscopy, Electron, Transmission
KW  - Oligonucleotide Array Sequence Analysis
KW  - Pakistan
KW  - Pedigree
KW  - Phenotype
KW  - Platelet Aggregation
KW  - Polymorphism, Single Nucleotide
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/499338
ER  -