Hermansky-Pudlak syndrome (HPS5) in a nonagenarian
J AAPOS
.
2014 Apr;18(2):209-10.
doi: 10.1016/j.jaapos.2014.02.002.
Authors
C Gail Summers
1
,
Lisa A Schimmenti
1
,
Steven Sperber
2
Affiliations
1
University of Minnesota, Minneapolis.
2
Denver Genetics Molecular Diagnostics Laboratory.
PMID:
24698632
DOI:
10.1016/j.jaapos.2014.02.002
No abstract available
Publication types
Letter
Comment
MeSH terms
Carrier Proteins / genetics*
Frameshift Mutation*
Hermanski-Pudlak Syndrome / genetics*
Humans
Male
Substances
Carrier Proteins