Find information on thousands of medical conditions and prescription drugs.

Nijmegen Breakage Syndrome

Nijmegen breakage syndrome (NBS) is a rare syndrome characterised by chromosomal instability, probably as a result of a defect in the Double Holliday Junction DNA repair mechanism. It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy. It is caused by a mutation in the NBS1 gene. The name derives from the Dutch city Nijmegen where the condition was first described (Weemaes et al 1981).

 Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
Narcolepsy
Necrophobia
Necrotizing fasciitis
Neisseria meningitidis
Nemaline myopathy
Neonatal hemochromatosis
Neophobia
Nephophobia
Nephrogenic diabetes...
Nephrotic syndrome
Neuraminidase deficiency
Neurasthenia
Neuroacanthocytosis
Neuroblastoma
Neurofibrillary tangles
Neurofibroma
Neurofibromatosis
Neurofibromatosis type 2
Neuroleptic malignant...
Niemann-Pick Disease
Nijmegen Breakage Syndrome
Nocardiosis
Noma
Non-Hodgkin lymphoma
Noonan syndrome
Norrie disease
Nosophobia
Nyctophobia
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Read more at Wikipedia.org
• [List your site here Free!]

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population.(Author Abstract) : An article from: Human Biology $5.95

657del5 Mutation of the Nijmegen Breakage Syndrome Gene (NBS1) in the Turkish Population
Abstract The 657del5 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). We identified four Turkish ...
From Human Biology, 6/1/05 by Tekin, Mustafa
Scientists Identify Gene That Detects DNA Damage
Researchers at the UW Medical School have found that mutations in a gene they've been studying for several years can cause ataxia-telangiectasia (A-T).
From Market Wire,

Home Contact Resources Exchange Links ebay