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Hermansky Pudlak syndrome
LE WE PMID CA
Hermansky Pudlak syndrome5456Hermansky Pudlak Syndrom

ADTB3A

Amyotrophic lateral sclerosis slow progressing ALS8

Amyotrophic lateral sclerosis

ARC syndrome

ARL6

Bardet Biedl syndrome

beta Actin

beta3 spectrin

Biomembranes (Traffic)

CEDNIK syndrome

Cell secretion (Intracellular transport)

Charcot Marie Tooth disease type 2a

Charcot Marie Tooth disease type 2b

Chediak Higashi syndrome

Choroideremia

COG7

Congenital disorder of glycosylation type IIe

Cranio lenticulo sutural dysplasia

Deafness (Inherited)

Developmental malformations deafness dystonia OMIM_607371

DTNBP1

Dysferlin

Elajalde syndrome Griscelli syndrome II

Factor V (Coagulation)

Factor VIII (Coagulation)

Familial hemophagoctic lymphohistiocytosis

Griscelli s syndrome III

Griscelli s syndrome2

Hereditary spastic paraplegia SPG10

Hereditary spastic paraplegia SPG4

Hermansky Pudlak syndrome

HPS1

HPS3

HPS4

HPS5

HPS6

KIF1B

KIF5A

Limb girdle muscular dystrophy type 2B

LMAN1 ERGIC53

Lowe s syndrome

LYST CHS1

Martsolf syndrome

MCFD2

Miyoshi s myopathy

MLPH

Myosin Ia Myo1a

Myosin Va Myo5a

Myosin VI

Myosin VIIa

Myosin XVa Myo15a

OCRL1

OMIM_300104

RAB27A

RAB3GAP

RAB7

RABGDIA

REP1

SEC23A

SNAP29

SPG20 Spartin

SPG4 Spastin

Spinal muscular atrophy late onset

Spinocerebellar ataxia5

Syntaxin11

Troyer syndrome SPG20

UNC13D Munc13 4 HPLH3

Usher syndrome type Ib

VAPB

VPS33B

Warburg Micro syndrome

2005  
1
The cell biology of Hermansky-Pudlak syndrome: recent advances.
[15941404] Traffic 6(7): 525-33 (2005)
2000  
2
Hermansky-Pudlak syndrome and related disorders of organelle formation.
[11208073] Traffic 1(11): 823-35 (2000)
2006  
3
When intracellular logistics fails--genetic defects in membrane trafficking.
[17158910] J Cell Sci 119(Pt 24): 5031-45 (2006)
2008  
4
Hermansky-pudlak syndrome: report of a case and review of the literature.
[18787629] Int J Clin Exp Pathol 1(6): 550-4 (2008)
2007  
5
Cargos and genes: insights into vesicular transport from inherited human disease.
[17526798] J Med Genet 44(9): 545-55 (2007)

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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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