Journal article

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

Rachel A Peat, Naomi L Baker, Kristi J Jones, Kathryn N North, Shireen R Lamande

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2007

DOI: 10.1016/j.nmd.2007.03.017

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Keywords

Life Sciences & Biomedicine
Pregnancy
Collagen Type-Vi
Bethlem Myopathy Collagen Vi Prenatal Diagnosis Ullrich Congenital Muscular Dystrophy
Family Health
Genetic Counseling
Globular Domains
Ullrich Congenital Muscular Dystrophy
Dna Mutational Analysis
Humans
Neurosciences
Alpha-2(vi) Chains
Child, Preschool
Male
Dominant
Science & Technology
Collagen Vi
Collagen Type Vi
Penetrance
Messenger-Rna Decay
Codon, Nonsense
Female
Clinical Neurology
Prenatal Diagnosis
Expression
Disease
Muscular Dystrophies
Neurosciences & Neurology
Sequence-Analysis
Mutation
Bethlem Myopathy
Fibroblasts
Vonwillebrand-Factor