A New Point Mutation in the COL4A5 Gene Described in a Spanish Family with X-Linked Alport Syndrome

Nephron ◽  
2002 ◽  
Vol 90 (4) ◽  
pp. 455-459 ◽  
Author(s):  
Lluís Palenzuela ◽  
Lluís M. Callís ◽  
Ramon Vilalta ◽  
Ángel Vila ◽  
José L. Nieto ◽  
...  
Keyword(s):  
Point Mutation ◽  
Alport Syndrome ◽  
Col4a5 Gene ◽  
Spanish Family

Identification of Four Novel Mutations in the COL4A5 Gene of Patients with Alport Syndrome

Genomics ◽  
1993 ◽  
Vol 17 (2) ◽  
pp. 485-489 ◽  
Author(s):  
Henny H. Lemmink ◽  
Cornelis H. Schröder ◽  
Han G. Brunner ◽  
Marcel R. Nelen ◽  
Jing Zhou ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Novel Mutations ◽  
Col4a5 Gene

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

1995 ◽  
Vol 16 (2) ◽  
pp. 39-44 ◽  
Author(s):  
Carlos Reig ◽  
Alicia Serra ◽  
Esther Gean ◽  
Mariona Vidal ◽  
Joaquin Arumi ◽  
...  
Keyword(s):  
Point Mutation ◽  
Spanish Family ◽  
Central Areolar Choroidal Dystrophy

scholarly journals A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

1997 ◽  
Vol 62 (4) ◽  
pp. 420-421 ◽  
Author(s):  
K Beyer ◽  
J I Lao-Villadoniga ◽  
B Vecino-Bilbao ◽  
R Cacabelos ◽  
R De la Fuente-Fernandez
Keyword(s):  
Point Mutation ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
Spanish Family ◽  
I Gene

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients

1995 ◽  
Vol 5 (3) ◽  
pp. 197-204 ◽  
Author(s):  
Eileen Boye ◽  
Frances Flinter ◽  
Jing Zhou ◽  
Karl Tryggvason ◽  
Martin Bobrow ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Novel Mutations ◽  
Col4a5 Gene ◽  
Collagenous Domain

scholarly journals Deletions of the COL4A5 gene in patients with Alport syndrome

1992 ◽  
Vol 42 (6) ◽  
pp. 1336-1344 ◽  
Author(s):  
Kai-Olaf Netzer ◽  
Lutz Renders ◽  
Jing Zhou ◽  
Oliver Pullig ◽  
Karl Tryggvason ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Col4a5 Gene

Alport syndrome caused by a 5′ deletion within the COL4A5 gene

1992 ◽  
Vol 89 (1) ◽  
pp. 120-121 ◽  
Author(s):  
Alessandra Renieri ◽  
Marco Seri ◽  
Jeanne C. Myers ◽  
Taina Pihlajaniemi ◽  
Adalberto Sessa ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Col4a5 Gene

scholarly journals Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

2008 ◽  
Vol 23 (8) ◽  
pp. 2525-2530 ◽  
Author(s):  
R. P. Krol ◽  
K. Nozu ◽  
K. Nakanishi ◽  
K. Iijima ◽  
Y. Takeshima ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Somatic Mosaicism ◽  
Mild Phenotype ◽  
Col4a5 Gene

scholarly journals Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells

1994 ◽  
Vol 46 (5) ◽  
pp. 1307-1314 ◽  
Author(s):  
Hitoshi Nakazato ◽  
Shinzaburo Hattori ◽  
Tadashi Ushijima ◽  
Toshinobu Matsuura ◽  
Yasushi Koitabashi ◽  
...  
Keyword(s):  
Germ Cells ◽  
Alport Syndrome ◽  
Primordial Germ Cells ◽  
Col4a5 Gene

scholarly journals Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Wijewickrama Eranga Sanjeewa ◽  
Hettiarachchi Dineshani ◽  
Loh Hwai Liang ◽  
Choong Lye Wai ◽  
Dissanayake Vajira HW
Keyword(s):  
Alport Syndrome ◽  
Col4a5 Gene ◽  
Novel Variant
Sign in / Sign up

Export Citation Format

Share Document