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.
Review
2004
Review
2004
The interplay of Fanconi anemia proteins in the DNA damage response.
Highly Cited
1999
Highly Cited
1999
Cholesterol Biosynthesis from Lanosterol
The cDNA encoding the 471-amino acid rat 7-dehydrocholesterol reductase (DHCR), an enzyme that has been implicated in both… 
Highly Cited
1987
Highly Cited
1987
The postnatal development of the dopamine-containing innervation of dorsal and ventral striatum: effects of the weaver gene
We report here that the pattern of loss of dopamine that occurs in the brains of adult mice carrying the autosomal recessive… 
Highly Cited
1986
Highly Cited
1986
Further evidence for the involvement of a phosphoprotein in the respiratory burst oxidase of human neutrophils.
Phosphorylation of a 47 kDa protein in human neutrophils is induced by phorbol 12-myristate 13-acetate (PMA), opsonized latex… 
Highly Cited
1982
Highly Cited
1982
A familial hemorrhagic diathesis in a Dutch family: an inherited deficiency of alpha 2-antiplasmin.
This study concerns a case of congenital homozygous deficiency in alpha 2-antiplasmin associated with a severe hemorrhagic… 
Highly Cited
1982
Highly Cited
1982
A new rat mutant with defective overhairs and spongy degeneration of the central nervous system: clinical and pathologic studies.
A new spontaneous autosomal recessive mutation with a nervous disorder and a hair anomaly occurred in a colony of Sprague Dawley… 
Highly Cited
1977
Highly Cited
1977
Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex.
In an attempt to map the gene (or genes) controlling the synthesis fo the fourth component of complement (C4), we performed… 
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… 
Highly Cited
1975
Highly Cited
1975
Hereditary C2 deficiency: Genetic studies and association with the HL-A system
Herediatary C2-deficiency has been shown to be transmitted asn an autosomal recessive characteristic. Recent evidence indicates… 
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)