autosomal recessive

释义

常染色体隐性；

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
Mutations in RPE65 cause autosomal recessive childhood|[ndash]|onset severe retinal dystrophy
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Di...
Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for ...