Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Item
http://www.wikidata.org/entity/Q28304697
Q29010718
sameAs
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeFatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.Clinical and biochemical heterogeneity associated with fumarase deficiency.Structural basis of fumarate hydratase deficiency.Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
P2860

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Item
http://www.wikidata.org/entity/Q28304697
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@ast
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@en
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@nl
type
label
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@ast
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@en
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@nl
prefLabel
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@ast
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@en
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Fumarase deficiency caused by ...... tial isodisomy of chromosome 1
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698