scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0923-1811(03)00071-9 |
P698 | PubMed publication ID | 12850305 |
P2093 | author name string | Yasushi Tomita | |
Yoshinori Miyamura | |||
Tamio Suzuki | |||
Katsuhiko Inagaki | |||
P2860 | cites work | Localization of low molecular weight GTP binding proteins to exocytic and endocytic compartments | Q24316079 |
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism | Q24320016 | ||
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism | Q24337149 | ||
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4 | Q24536147 | ||
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse | Q24619568 | ||
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene | Q24677297 | ||
Rab proteins as membrane organizers | Q27860861 | ||
Molecular cloning and expression analysis of the human Rab7 GTP-ase complementary deoxyribonucleic acid | Q28116614 | ||
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population | Q28138730 | ||
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome | Q29620423 | ||
Mutation of melanosome protein RAB38 in chocolate mice | Q34048569 | ||
Rab GTPases, intracellular traffic and disease. | Q34109808 | ||
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene | Q35223876 | ||
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism | Q35820377 | ||
Mutant Rab7 causes the accumulation of cathepsin D and cation-independent mannose 6-phosphate receptor in an early endocytic compartment | Q36255234 | ||
Molecular genetics of oculocutaneous albinism | Q40588661 | ||
Tyrosinase and tyrosinase-related protein 1 require Rab7 for their intracellular transport | Q45143370 | ||
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan | Q73101247 | ||
P433 | issue | 2 | |
P304 | page(s) | 131-136 | |
P577 | publication date | 2003-08-01 | |
P1433 | published in | Journal of Dermatological Science | Q15749351 |
P1476 | title | Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA. | |
P478 | volume | 32 |
Q44150153 | A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism |
Q36008833 | Analysis of ocular hypopigmentation in Rab38cht/cht mice |
Q45841491 | Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism |
Q21284502 | Mutational analysis of oculocutaneous albinism: a compact review |
Q57213477 | OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean |
Q36119125 | Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes |
Q24319131 | Rab7: roles in membrane trafficking and disease |
Q45345288 | SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism |
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