Hermansky-Pudlak syndrome: the importance of molecular subtyping.
Thielen
N
N
Huizing
M
M
Krabbe
J G
JG
White
J G
JG
Jansen
T J
TJ
Merle
P A
PA
Gahl
W A
WA
Zweegman
S
S
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D022861:Hermanski-Pudlak Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008002:Libya; D008297:Male; D011379:Prognosis
Haematologica. 2010 Feb;95(2):333-7
19679886
Annu Rev Genomics Hum Genet. 2008;9:359-86
18544035
Am J Hum Genet. 2001 Nov;69(5):1022-32
11590544
Nat Immunol. 2003 Nov;4(11):1111-20
14566336
J Invest Dermatol. 2006 Jan;126(1):85-90
16417222
Mol Genet Metab. 2002 Jul;76(3):234-42
12126938
Pigment Cell Res. 2006 Feb;19(1):19-42
16420244