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Year | Number of Results |
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1993 | 1 |
2000 | 1 |
2002 | 1 |
2003 | 1 |
2023 | 1 |
2024 | 0 |
PubMed for id: 588480543
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Hermansky-Pudlak Syndrome.
2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301464
Free Books & Documents.
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Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
Anderson PD, Huizing M, Claassen DA, White J, Gahl WA.
Anderson PD, et al.
Hum Genet. 2003 Jul;113(1):10-7. doi: 10.1007/s00439-003-0933-5. Epub 2003 Mar 27.
Hum Genet. 2003.
PMID: 12664304
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Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA.
Suzuki T, et al.
Nat Genet. 2002 Mar;30(3):321-4. doi: 10.1038/ng835. Epub 2002 Feb 11.
Nat Genet. 2002.
PMID: 11836498
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