Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
about
Extensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report.Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicismCharacterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
P2860
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
description
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name
Deletion of the 5'exons of COL ...... patients with Alport syndrome.
@en
Deletion of the 5'exons of COL ...... patients with Alport syndrome.
@nl
type
label
Deletion of the 5'exons of COL ...... patients with Alport syndrome.
@en
Deletion of the 5'exons of COL ...... patients with Alport syndrome.
@nl
prefLabel
Deletion of the 5'exons of COL ...... patients with Alport syndrome.
@en
Deletion of the 5'exons of COL ...... patients with Alport syndrome.
@nl
P2093
P2860
P1476
Deletion of the 5'exons of COL ...... patients with Alport syndrome
@en
P2093
Adelino Carvalho
Arjan P M de Brouwer
Fernanda Carvalho
Fernando Neves
Fernando Teixeira e Costa
Filipa Carvalho
Francisco Teixeira de Sousa
Guy Froyen
Joana Felgueiras
José Ramón Vizcaíno
P2860
P304
P356
10.1136/JMEDGENET-2013-101670
P407
P577
2013-08-19T00:00:00Z