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
2007
Highly Cited
2007
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Highly Cited
2004
Highly Cited
2004
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired… 
Review
2000
Review
2000
Peroxisome biogenesis disorders: genetics and cell biology.
Highly Cited
1995
Highly Cited
1995
A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase.
Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase, EC 2.1.1.67) activity exhibits… 
Highly Cited
1994
Highly Cited
1994
Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese.
A genetic polymorphism in the metabolism of the anticonvulsant drug (S)-mephenytoin has been well documented in humans. There are… 
Highly Cited
1991
Highly Cited
1991
Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant
PEROXISOMES are among the intracellular organdies of eukaryotic cells that contain specialized sets of enzymes with specific… 
Highly Cited
1985
Highly Cited
1985
Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance
A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy – candidosis… 
Highly Cited
1983
Highly Cited
1983
Fetal akinesia deformation sequence: an animal model.
Rat fetuses were paralyzed by daily transuterine injections of curare from day 18 of gestation until term (day 21). The following… 
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
1964
Highly Cited
1964
Mutant Mice (Quaking and Jimpy) with Deficient Myelination in the Central Nervous System
Two mutant mice with deficient myelination are described. Quaking is a new autosomal recessive mutant mouse with marked tremor of… 
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)