Topic: Base Sequence
Journal: Human Mutation
Documents
A list of abstracts that contain a topic of "Base Sequence" and a journal name of "Human Mutation".
High Efficiency of Mutation Detection in Type 1 Stickler Syndrome Using a Two-stage Approach: Vitreoretinal Assessment Coupled with Exon Sequencing for Screening Col2a1.
PMID: 16752401
De Novo Gene Conversion in the Rca Gene Cluster (1q32) Causes Mutations in Complement Factor H Associated with Atypical Hemolytic Uremic Syndrome.
PMID: 16470555
Distinct Patterns of Germ-line Deletions in Mlh1 and Msh2: the Implication of Alu Repetitive Element in the Genetic Etiology of Lynch Syndrome (Hnpcc).
PMID: 16541406
Twenty-one Novel Mutations in the Glb1 Gene Identified in a Large Group of Gm1-gangliosidosis and Morquio B Patients: Possible Common Origin for the Prevalent P.r59h Mutation Among Gypsies.
PMID: 16941474