Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.
Barakat
A
A
Institut Pasteur du Maroc, 1 place Abou Kacem Ez-Zahraoui, BP 120, Casablanca, Maroc.
Ababou
M
M
Onclercq
R
R
Dutertre
S
S
Chadli
E
E
Hda
N
N
Benslimane
A
A
Amor-Guéret
M
M
D000251:Adenosine Triphosphatases / Q000235:genetics*; D001816:Bloom Syndrome / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D006801:Humans; D009018:Morocco; D020125:Mutation, Missense / Q000235:genetics*; D053484:RecQ Helicases; D013912:Threonine / Q000235:genetics
D013912:Threonine; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases; D003545:Cysteine