P gene mutations associated with oculocutaneous albinism type II (OCA2)

2005 ◽  
Vol 25 (3) ◽  
pp. 323-323 ◽  
Author(s):  
William S. Oetting ◽  
Sarah Savage Garrett ◽  
Marcia Brott ◽  
Richard A. King
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
P Gene

scholarly journals In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified

2001 ◽  
Vol 68 (3) ◽  
pp. 782-787 ◽  
Author(s):  
Prashiela Manga ◽  
Jennifer G.R. Kromberg ◽  
Angela Turner ◽  
Trefor Jenkins ◽  
Michele Ramsay
Keyword(s):  
Southern Africa ◽  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
P Gene

scholarly journals Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients

2003 ◽  
Vol 120 (5) ◽  
pp. 781-783 ◽  
Author(s):  
Tamio Suzuki ◽  
Yoshinori Miyamura ◽  
Jun Matsunaga ◽  
Hiroshi Shimizu ◽  
Yasuhiro Kawachi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
P Gene

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)

2003 ◽  
Vol 31 (3) ◽  
pp. 189-192 ◽  
Author(s):  
Atsushi Kato ◽  
Kazuyoshi Fukai ◽  
Naoki Oiso ◽  
Naoko Hosomi ◽  
Shinji Saitoh ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
P Gene

Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2)

2008 ◽  
Vol 49 (1) ◽  
pp. 98-101 ◽  
Author(s):  
Duangrurdee Wattanasirichaigoon ◽  
Pim Suwannarat ◽  
Supranee Thongpradit
Keyword(s):  
Oculocutaneous Albinism ◽  
Chinese Patient ◽  
Type Ii ◽  
P Gene ◽  
Splice Mutations

Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)

1998 ◽  
Vol 12 (6) ◽  
pp. 434-434 ◽  
Author(s):  
WS Oetting ◽  
JM Gardner ◽  
JP Fryer ◽  
A Ching ◽  
D Durham-Pierre ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Type Ii ◽  
P Gene

scholarly journals Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.

1994 ◽  
Vol 91 (25) ◽  
pp. 12071-12075 ◽  
Author(s):  
S. Rosemblat ◽  
D. Durham-Pierre ◽  
J. M. Gardner ◽  
Y. Nakatsu ◽  
M. H. Brilliant ◽  
...  
Keyword(s):  
Membrane Protein ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
Pink Eyed Dilution
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