PMC Links for Books (Select 1493654) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 45447532.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 44613053.

Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity

Bum-Ho Bin, Jinhyuk Bhin, Seung Ha Yang, Misun Shin, Yeon-Ju Nam, Dong-Hwa Choi, Dong Wook Shin, Ai-Young Lee, Daehee Hwang, Eun-Gyung Cho, Tae Ryong Lee

PLoS One. 2015; 10(6): e0129273. Published online 2015 Jun 9. doi: 10.1371/journal.pone.0129273

PMCID:: PMC4461305

Abstract Article PDF–8.0M

Select item 35156834.

Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

Saunie M. Hutton, Richard A. Spritz

J Invest Dermatol. Author manuscript; available in PMC 2012 Dec 6.

Published in final edited form as: J Invest Dermatol. 2008 Oct; 128(10): 2442–2450. Published online 2008 May 8. doi: 10.1038/jid.2008.109

PMCID:: PMC3515683

Abstract Article PDF–314K

Select item 34832045.

Skin cancers among Albinos at a University teaching hospital in Northwestern Tanzania: a retrospective review of 64 cases

Joseph B Mabula, Phillipo L Chalya, Mabula D Mchembe, Hyasinta Jaka, Geofrey Giiti, Peter Rambau, Nestory Masalu, Erasmus Kamugisha, Ssentongo Robert, Japhet M Gilyoma

BMC Dermatol. 2012; 12: 5. Published online 2012 Jun 8. doi: 10.1186/1471-5945-12-5

PMCID:: PMC3483204

Abstract Article PDF–239K

Select item 12743746.

Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

J. M. Newton, Orit Cohen-Barak, Nobuko Hagiwara, John M. Gardner, Muriel T. Davisson, Richard A. King, Murray H. Brilliant

Am J Hum Genet. 2001 Nov; 69(5): 981–988. Published online 2001 Sep 26. doi: 10.1086/324340

PMCID:: PMC1274374

Abstract Article PDF–565K

Select item 11822607.

Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii, Yoshinori Umezawa, Joji Tada, Noriaki Kikuchi, Minoru Takata, Kenji Takamori, Mari Kishibe, Michi Tanaka, Yoshinori Miyamura, Shiro Ito, Yasushi Tomita

Am J Hum Genet. 2004 Mar; 74(3): 466–471. Published online 2004 Feb 11. doi: 10.1086/382195

PMCID:: PMC1182260

Abstract Article PDF–185K

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