African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

1994 ◽  
Vol 7 (2) ◽  
pp. 176-179 ◽  
Author(s):  
D. Durham-Pierre ◽  
J. M. Gardner ◽  
Y. Nakatsu ◽  
R. A. King ◽  
U. Francke ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
African Origin ◽  
P Gene ◽  
Intragenic Deletion

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of theP gene

2003 ◽  
Vol 119A (2) ◽  
pp. 180-183 ◽  
Author(s):  
C. Fridman ◽  
N. Hosomi ◽  
M.C. Varela ◽  
A.H. Souza ◽  
K. Fukai ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Oculocutaneous Albinism ◽  
Intragenic Deletion

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

1994 ◽  
Vol 330 (8) ◽  
pp. 529-534 ◽  
Author(s):  
Seung-Taek Lee ◽  
Robert D. Nicholls ◽  
Sarah Bundey ◽  
Renata Laxova ◽  
Maria Musarella ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Prader Willi Syndrome ◽  
Ocular Albinism ◽  
P Gene

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

1997 ◽  
Vol 100 (5-6) ◽  
pp. 651-656 ◽  
Author(s):  
Neelu Puri ◽  
Donna Durham-Pierre ◽  
Robert Aquaron ◽  
Patricia M. Lund ◽  
Richard A. King ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Deletion Allele ◽  
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

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
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