A missense mutation (211His-Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family

1994 ◽  
Vol 3 (1) ◽  
pp. 195-196 ◽  
Author(s):  
C. Reig ◽  
N. Liecha ◽  
J. Antich ◽  
E. Gean ◽  
I. Tejada ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

scholarly journals Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

1995 ◽  
Vol 40 (3) ◽  
pp. 271-277 ◽  
Author(s):  
Keiko Fujiki ◽  
Yoshihiro Hotta ◽  
Akira Murakami ◽  
Masaru Yoshii ◽  
Mutsuko Hayakawa ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Genomics ◽  
1994 ◽  
Vol 21 (2) ◽  
pp. 461-463 ◽  
Author(s):  
Rajani Vaithinathan ◽  
Eliot L. Berson ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

2000 ◽  
Vol 21 (2) ◽  
pp. 79-87 ◽  
Author(s):  
Carlos Reig ◽  
Maria Martinez-Gimeno ◽  
Blanca Garcia-Sandoval ◽  
M. Teresa Calvo ◽  
Carmen Ayuso ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

scholarly journals A Missense Mutation inHK1Leads to Autosomal Dominant Retinitis Pigmentosa

2014 ◽  
Vol 55 (11) ◽  
pp. 7159 ◽  
Author(s):  
Feng Wang ◽  
Yandong Wang ◽  
Bin Zhang ◽  
Li Zhao ◽  
Vera Lyubasyuk ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa

scholarly journals Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

1992 ◽  
Vol 37 (2) ◽  
pp. 125-132 ◽  
Author(s):  
Keiko Fujiki ◽  
Yoshihiro Hotta ◽  
Mutsuko Hayakawa ◽  
Hitoshi Sakuma ◽  
Takashi Shiono ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

2000 ◽  
Vol 15 (6) ◽  
pp. 583-584 ◽  
Author(s):  
Corinne Bareil ◽  
Val�rie Delague ◽  
Bernard Arnaud ◽  
Jacques Demaille ◽  
Christian Hamel ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa

Mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

1992 ◽  
Vol 55 ◽  
pp. 252
Author(s):  
H. Sakuma ◽  
Y. Hotta ◽  
M. Hayakawa ◽  
A. Nakajima ◽  
K. Fujiki ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene
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