Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.
Faiyaz-Ul-Haque
M
M
Zaidi
S H E
SH
Wahab
A A
AA
Eltohami
A
A
Al-Mureikhi
M S
MS
Al-Thani
G
G
Peltekova
V D
VD
Tsui
L-C
LC
Teebi
A S
AS
D001158:Arteries / Q000002:abnormalities*; D003240:Connective Tissue Diseases / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005192:Family Health; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia
D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human