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… (More)
National Institutes of Health

Papers overview

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2009
2009
Mutations in the collagen VI genes (COL6A1, COL6A2 and COL6A3) result in Ullrich congenital muscular dystrophy (CMD), Bethlem… (More)
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Highly Cited
2007
Highly Cited
2007
Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary immunodeficiency syndrome associated with increased… (More)
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Highly Cited
2002
Highly Cited
2002
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis… (More)
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Highly Cited
2000
Highly Cited
2000
The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of… (More)
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Highly Cited
2000
Highly Cited
2000
Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive… (More)
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Highly Cited
2000
Highly Cited
2000
Normal development of the cerebral cortex requires long-range migration of cortical neurons from proliferative regions deep in… (More)
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Highly Cited
1998
Highly Cited
1998
Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either… (More)
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Highly Cited
1997
Highly Cited
1997
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies… (More)
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Highly Cited
1997
Highly Cited
1997
Autosomal recessive childhood-onset severe retinal dystrophy (arCSRD) designates a heterogeneous group of disorders affecting rod… (More)
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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… (More)
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