scholarly journals Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

2001 ◽  
Vol 18 (2) ◽  
pp. 164-164 ◽  
Author(s):  
Marcia J. Simovich ◽  
Beverly Miller ◽  
Hany Ezzeldin ◽  
Bryan T. Kirkland ◽  
Genevieve McLeod ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Leber Congenital Amaurosis

scholarly journals Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

2013 ◽  
Vol 21 (11) ◽  
pp. 1266-1271 ◽  
Author(s):  
Frida Jonsson ◽  
Marie S Burstedt ◽  
Ola Sandgren ◽  
Anna Norberg ◽  
Irina Golovleva
Keyword(s):  
Novel Mutations ◽  
Stargardt Disease ◽  
Leber Congenital Amaurosis ◽  
Swedish Family

Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

2007 ◽  
Vol 48 (12) ◽  
pp. 5690 ◽  
Author(s):  
Anneke I. den Hollander ◽  
Irma Lopez ◽  
Suzanne Yzer ◽  
Marijke N. Zonneveld ◽  
Irene M. Janssen ◽  
...  
Keyword(s):  
Homozygosity Mapping ◽  
Novel Mutations ◽  
Leber Congenital Amaurosis ◽  
Genome Wide ◽  
Snp Microarrays

Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes

2015 ◽  
Vol 26 (1) ◽  
pp. 78-84 ◽  
Author(s):  
Rita Vámos ◽  
Maigi Külm ◽  
Viktoria Szabó ◽  
Aune Ahman ◽  
Balázs Lesch ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Leber Congenital Amaurosis

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)

2020 ◽  
Author(s):  
Stephen R. Russell ◽  
Arlene V. Drack ◽  
Artur V. Cideciyan ◽  
Samuel G. Jacobson ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Leber Congenital Amaurosis
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