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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… 
National Institutes of Health

Related topics

Related topics

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

Papers overview

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Review
2006
Review
2006
Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes… 
Highly Cited
2003
Highly Cited
2003
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.
Xeroderma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability to repair UV-induced DNA… 
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
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… 
Review
1995
Review
1995
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
Clinical differences exist between the three forms of myotubular myopathy. They differ regarding age at onset, severity of the… 
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
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… 
Highly Cited
1976
Highly Cited
1976
Inhibition of maturation of human precursor lymphocytes by coformycin, and inhibitor of the enzyme adenosine deaminase
High concentrations of adenosine are known to be toxic to fibroblasts and lymphocytes under conditions of in vitro culture (1,2… 
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