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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

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
1997
Highly Cited
1997
Familial intracranial aneurysms
Highly Cited
1997
Highly Cited
1997
Epidermal barrier in disorders of the skin
  • M. Fartasch
  • Microscopy research and technique (Print)
  • 1997
  • Corpus ID: 25662782
The water permeability barrier of the stratum corneum (SC) seems primarily to be regulated by the lamellarly arranged lipid… 
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
1985
Highly Cited
1985
A lethal autosomal recessive syndrome of multiple congenital contractures.
We describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings… 
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
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… 
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