Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: A MANBAmutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant

Figure 1

Segregation of the c.1922G>A MANBA mutation in the family. A, Family pedigree. The arrow denotes the proband. Genetic status for the c.1922G>A mutation is indicated by black and white symbols. B, Restriction enzyme analysis of exon 14 in the patient, his family and three control subjects (denoted C1 to C3). PCR-amplified exon 14 (a 423 bp fragment) was digested with MaeIII or BbvI and analyzed by gel electrophoresis.

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us