Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

J. Oh; L. Ho; S. Ala-Mello; D. Amato; L. Armstrong; S. Bellucci; G. Carakushansky; J.P. Ellis; C.T. Fong; J.S. Green; E. Heon; E. Legius; A.V. Levin; H.K. Nieuwenhuis; A. Pinckers; N. Tamura; M.L. Whiteford; H. Yamasaki; R.A. Spritz

Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Translated title of the contribution: Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

J. Oh, L. Ho, S. Ala-Mello, D. Amato, L. Armstrong, S. Bellucci, G. Carakushansky, J.P. Ellis, C.T. Fong, J.S. Green, E. Heon, E. Legius, A.V. Levin, H.K. Nieuwenhuis, A. Pinckers, N. Tamura, M.L. Whiteford, H. Yamasaki, R.A. Spritz

Hematology/Van Creveldclinic

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Original language	Undefined/Unknown
Pages (from-to)	593-598
Number of pages	6
Journal	American Journal of Human Genetics
Volume	62
Publication status	Published - 1998

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)
Bescherming en bevordering van de menselijke gezondheid
Other medical specialities

Cite this

Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C. T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., & Spritz, R. A. (1998). Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. American Journal of Human Genetics, 62, 593-598.

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title = "Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK), Bescherming en bevordering van de menselijke gezondheid, Other medical specialities",

author = "J. Oh and L. Ho and S. Ala-Mello and D. Amato and L. Armstrong and S. Bellucci and G. Carakushansky and J.P. Ellis and C.T. Fong and J.S. Green and E. Heon and E. Legius and A.V. Levin and H.K. Nieuwenhuis and A. Pinckers and N. Tamura and M.L. Whiteford and H. Yamasaki and R.A. Spritz",

year = "1998",

language = "Undefined/Unknown",

volume = "62",

pages = "593--598",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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Oh, J, Ho, L, Ala-Mello, S, Amato, D, Armstrong, L, Bellucci, S, Carakushansky, G, Ellis, JP, Fong, CT, Green, JS, Heon, E, Legius, E, Levin, AV, Nieuwenhuis, HK, Pinckers, A, Tamura, N, Whiteford, ML, Yamasaki, H & Spritz, RA 1998, 'Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.', American Journal of Human Genetics, vol. 62, pp. 593-598.

TY - JOUR

T1 - Mutation analysis of patients with Hermansky-Podlak Syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

AU - Oh, J.

AU - Ho, L.

AU - Ala-Mello, S.

AU - Amato, D.

AU - Armstrong, L.

AU - Bellucci, S.

AU - Carakushansky, G.

AU - Ellis, J.P.

AU - Fong, C.T.

AU - Green, J.S.

AU - Heon, E.

AU - Legius, E.

AU - Levin, A.V.

AU - Nieuwenhuis, H.K.

AU - Pinckers, A.

AU - Tamura, N.

AU - Whiteford, M.L.

AU - Yamasaki, H.

AU - Spritz, R.A.

PY - 1998

Y1 - 1998

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Bescherming en bevordering van de menselijke gezondheid

KW - Other medical specialities

M3 - Article

SN - 0002-9297

VL - 62

SP - 593

EP - 598

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -