TY  - GEN
AU  - Anikster,Y
AU  - Huizing,M
AU  - White,J
AU  - Shevchenko,Y O
AU  - Fitzpatrick,D L
AU  - Touchman,J W
AU  - Compton,J G
AU  - Bale,S J
AU  - Swank,R T
AU  - Gahl,W A
AU  - Toro,J R
TI  - Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
SN  - 1061-4036
PY  - 2001///0816
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Blotting, Northern
KW  - Carrier Proteins
KW  - genetics
KW  - Chromosomes, Human, Pair 3
KW  - DNA Mutational Analysis
KW  - Female
KW  - Founder Effect
KW  - Genetic Carrier Screening
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Hermanski-Pudlak Syndrome
KW  - epidemiology
KW  - Homozygote
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Organ Specificity
KW  - Pedigree
KW  - Phenotype
KW  - Physical Chromosome Mapping
KW  - Puerto Rico
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/ng576
ER  -