Fukai K - Search Results

1

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA. Oh J, et al. Among authors: fukai k. Nat Genet. 1996 Nov;14(3):300-6. doi: 10.1038/ng1196-300. Nat Genet. 1996. PMID: 8896559

2

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA. Fukai K, et al. Nat Genet. 1995 Jan;9(1):92-5. doi: 10.1038/ng0195-92. Nat Genet. 1995. PMID: 7704033

3

Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

Spritz RA, Fukai K, Holmes SA, Luande J. Spritz RA, et al. Among authors: fukai k. Am J Hum Genet. 1995 Jun;56(6):1320-3. Am J Hum Genet. 1995. PMID: 7762554 Free PMC article.

4

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

Fukai K, Oh J, Frenk E, Almodóvar C, Spritz RA. Fukai K, et al. Hum Mol Genet. 1995 Sep;4(9):1665-9. doi: 10.1093/hmg/4.9.1665. Hum Mol Genet. 1995. PMID: 8541858

5

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Bürger J, Spritz RA. Fukai K, et al. Am J Hum Genet. 1996 Sep;59(3):620-4. Am J Hum Genet. 1996. PMID: 8751863 Free PMC article.

6

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.

Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Bailin T, et al. Among authors: fukai k. J Invest Dermatol. 1997 Jun;108(6):923-7. doi: 10.1111/1523-1747.ep12294634. J Invest Dermatol. 1997. PMID: 9182823 Free article.

7

Organization and sequence of the human P gene and identification of a new family of transport proteins.

Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA. Lee ST, et al. Among authors: fukai k. Genomics. 1995 Mar 20;26(2):354-63. doi: 10.1016/0888-7543(95)80220-g. Genomics. 1995. PMID: 7601462

8

A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism.

Spritz RA, Holmes SA, Berg SZ, Nordlund JJ, Fukai K. Spritz RA, et al. Among authors: fukai k. Hum Mol Genet. 1993 Sep;2(9):1499-500. doi: 10.1093/hmg/2.9.1499. Hum Mol Genet. 1993. PMID: 7694728 No abstract available.

9

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV. Spritz RA, et al. Among authors: fukai k. Hum Mutat. 1997;10(2):171-4. doi: 10.1002/(SICI)1098-1004(1997)10:2<171::AID-HUMU11>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9259202 No abstract available.

10

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG. Spritz RA, et al. Among authors: fukai k. Hum Mutat. 1997;10(2):175-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9259203 No abstract available.

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