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Autosomal recessive inheritance

Known as: Autosomal recessive, Autosomal recessive., autosomal recessives 
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in… Expand
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Review
2019
Review
2019
Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of the field of medical genetics… Expand
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Review
2018
Review
2018
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations… Expand
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Highly Cited
2002
Highly Cited
2002
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a… Expand
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Highly Cited
2001
Highly Cited
2001
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density… Expand
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Highly Cited
2001
Highly Cited
2001
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation… Expand
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Highly Cited
1999
Highly Cited
1999
Narcolepsy is a disabling sleep disorder affecting humans and animals. It is characterized by daytime sleepiness, cataplexy, and… Expand
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Highly Cited
1998
Highly Cited
1998
Parkinson's disease is a common neurodegenerative disease with complex clinical features. Autosomal recessive juvenile… Expand
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Highly Cited
1996
Highly Cited
1996
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous… Expand
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Highly Cited
1995
Highly Cited
1995
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning… Expand
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