Comment
doi: 10.1111/pcmr.12543.
Epub 2016 Nov 30.
A new type of syndromic albinism associated with mutations in AP3D1
- PMID: 27900855
- PMCID: PMC5555751
- DOI: 10.1111/pcmr.12543
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Comment
A new type of syndromic albinism associated with mutations in AP3D1
Pigment Cell Melanoma Res.
2017 Jan.
No abstract available
Comment on
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Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7. Blood. 2016. PMID: 26744459 Free PMC article.
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References
-
- Dennis MK, Delevoye C, Acosta-Ruiz A, Hurbain I, Romao M, Hesketh GG, Goff PS, Sviderskaya EV, Bennett DC, Luzio JP, Galli T, Owen DJ, Raposo G, Marks MS. BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers. J Cell Biol. 2016;214:293–308. - PMC - PubMed
-
- Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint, Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, zur Stadt U, Aichele P, Ehl S. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood. 2013;121:2943–2951. - PMC - PubMed
-
- Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernandez A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014;27:11–18. - PubMed
-
- Montoliu L, Kelsh RN. Do you have to be albino to be albino? Pigment Cell Melanoma Res. 2014;27:325–326. - PubMed
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