TY  - GEN
AU  - Huizing,M
AU  - Pederson,B
AU  - Hess,R A
AU  - Griffin,A
AU  - Helip-Wooley,A
AU  - Westbroek,W
AU  - Dorward,H
AU  - O'Brien,K J
AU  - Golas,G
AU  - Tsilou,E
AU  - White,J G
AU  - Gahl,W A
TI  - Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
SN  - 1468-6244
PY  - 2010///0311
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Blotting, Northern
KW  - DNA
KW  - chemistry
KW  - Female
KW  - Genetic Variation
KW  - Hermanski-Pudlak Syndrome
KW  - genetics
KW  - Humans
KW  - Immunohistochemistry
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Melanosomes
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Single Nucleotide
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural
UR  - https://doi.org/10.1136/jmg.2008.065961
ER  -