The 3A subunit gene ( Ap3b1 ) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky–Pudlak syndrome and night blindness

By Eicher E.M.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 323-330

Oxford University Press

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Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare ‘AT-AC’ Intron

By Feng Guo Hong   Bailin Tu   Oh Jangsuk   Spritz Richard A.  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 793-797

Oxford University Press

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The Hermansky–Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes

By Oh Jangsuk   Liu Zhen-Xiang   Feng Guo Hong   Raposo Graça   Spritz Richard A.  

Human Molecular Genetics, Vol. 9, Iss. 3, 2000-02 ,pp. : 375-385

Oxford University Press

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Isolation and embryonic expression of the novel mouse gene Hic1 , the homologue of HIC1 , a candidate gene for the Miller–Dieker syndrome

By Grimm C.   Spörle R.   Schmid T.E.   Adler I-D.   Adamski J.   Graw J.   Schughart K.  

Human Molecular Genetics, Vol. 8, Iss. 4, 1999-04 ,pp. : 697-710

Oxford University Press

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The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

By Walkowicz M.J.  

Human Molecular Genetics, Vol. 8, Iss. 3, 1999-03 ,pp. : 533-542

Oxford University Press

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