scholarly journals A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

1990 ◽  
Vol 87 (9) ◽  
pp. 3255-3258 ◽  
Author(s):  
L. B. Giebel ◽  
K. M. Strunk ◽  
R. A. King ◽  
J. M. Hanifin ◽  
R. A. Spritz
Keyword(s):  
Gene Mutation ◽  
Oculocutaneous Albinism ◽  
Negative Type ◽  
Tyrosinase Gene ◽  
Type Ia

Detection of Mutations in the Tyrosinase Gene in a Patient with Type IA Oculocutaneous Albinism

1990 ◽  
Vol 322 (24) ◽  
pp. 1724-1728 ◽  
Author(s):  
Richard A. Spritz ◽  
Kathleen M. Strunk ◽  
Lutz B. Giebel ◽  
Richard A. King
Keyword(s):  
Oculocutaneous Albinism ◽  
Tyrosinase Gene ◽  
Type Ia ◽  
Detection Of Mutations

The R402Q mutation of the Tyrosinase Gene: Lack of Association with oculocutaneous albinism type 1 (OCA1).

2004 ◽  
Vol 17 (4) ◽  
pp. 427-427
Author(s):  
R. A. King ◽  
J. Pietsch ◽  
M. J. Brott ◽  
S. Savage ◽  
J. P. Fryer ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Tyrosinase Gene

Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism

1992 ◽  
Vol 3 (3) ◽  
pp. 181-185 ◽  
Author(s):  
J MATSUNAGA ◽  
A TAKEDA ◽  
Y TOMITA ◽  
M HARA ◽  
S SHIBAHARA ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Oculocutaneous Albinism ◽  
Tyrosinase Gene

Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gs? gene mutation

1998 ◽  
Vol 77 (4) ◽  
pp. 261-267 ◽  
Author(s):  
Jon M. Nakamoto ◽  
Anna T. Sandstrom ◽  
Arnold S. Brickman ◽  
Robert A. Christenson ◽  
Cornelis Van Dop
Keyword(s):  
Gene Mutation ◽  
Paternal Transmission ◽  
Type Ia

Polymorphic markers of the human tyrosinase gene for indirect gene diagnosis of tyrosinase-related oculocutaneous albinism (OCA1)

1998 ◽  
Vol 16 ◽  
pp. S149
Author(s):  
Jun Matsunaga ◽  
Muneo Tanita ◽  
Miwako Dakeishi-Hara ◽  
Eriko Nakamura ◽  
Yoshinori Miyamura ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Polymorphic Markers ◽  
Gene Diagnosis ◽  
Tyrosinase Gene ◽  
Human Tyrosinase

Prenatal diagnosis of oculocutaneous albinism by tyrosinase gene analysis

1993 ◽  
Vol 6 (1) ◽  
pp. 37
Author(s):  
Hiroshi Shimizu ◽  
Hironori Niizeki ◽  
Kaoru Suzumori ◽  
Ryoji Aozaki ◽  
Ryuji Kawaguchi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Gene Analysis ◽  
Tyrosinase Gene

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism

2004 ◽  
Vol 35 (3) ◽  
pp. 215-220 ◽  
Author(s):  
Maki Goto ◽  
Kazuko C. Sato-Matsumura ◽  
Daisuke Sawamura ◽  
Koichi Yokota ◽  
Hideki Nakamura ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Oculocutaneous Albinism ◽  
Gene Analysis ◽  
Tyrosinase Gene
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