Skip to search formSkip to main contentSkip to account menu

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… 
National Institutes of Health

Related topics

Related topics

50 relations
AICARDI-GOUTIERES SYNDROME 6AMINOPTERIN SYNDROME SINE AMINOPTERINAchondrogenesis, type IB (disorder)CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
Cyclic GMP-dependent protein kinase II is a molecular switch from proliferation to hypertrophic differentiation of chondrocytes.
The Komeda miniature rat Ishikawa (KMI) is a naturally occurring mutant caused by an autosomal recessive mutation mri, which… 
Highly Cited
2001
Highly Cited
2001
Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.
Fanconi anaemia (FA) is an autosomal recessive inherited disorder associated with a progressive aplastic anaemia, diverse… 
Highly Cited
1999
Highly Cited
1999
A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF.
Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome. The phenotype includes developmental defects, bone… 
Highly Cited
1998
Highly Cited
1998
Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13
Osteoporosis is a leading public health problem that is responsible for substantial morbidity and mortality. A major determinant… 
Highly Cited
1997
Highly Cited
1997
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.
Werner syndrome (WS) is an autosomal recessive disease with a complex phenotype that is suggestive of accelerated aging. WS is… 
Highly Cited
1997
Highly Cited
1997
Familial intracranial aneurysms
Highly Cited
1996
Highly Cited
1996
Genetic homogeneity of autoimmune polyglandular disease type I.
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease (MIM 240300) characterized by… 
Highly Cited
1990
Highly Cited
1990
A new allele of the lpr locus, lprcg, that complements the gld gene in induction of lymphadenopathy in the mouse
Several mice with generalized lymphadenopathy were found in the CBA/KlJms (CBA) colony maintained at our institute. A new mutant… 
Highly Cited
1987
Highly Cited
1987
An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2
Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxy… 
Highly Cited
1976
Highly Cited
1976
Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts
ATAXIA telangiectasia (AT) (Louis–Bar syndrome) is a rare human neurovascular disease displaying an autosomal recessive pattern… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)