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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.
Highly Cited
2001
Highly Cited
2001
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Highly Cited
2001
Highly Cited
2001
Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.
Highly Cited
2000
Highly Cited
2000
Spectrum of Mutations in Long-QT Syndrome Genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
BackgroundLong-QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on ECG and… 
Highly Cited
1998
Highly Cited
1998
The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response
Highly Cited
1998
Highly Cited
1998
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Highly Cited
1997
Highly Cited
1997
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
The homeodomain protein IPF1 (also known as IDX1, STF1 and PDX1; see Methods) is critical for development of the pancreas in mice… 
Highly Cited
1990
Highly Cited
1990
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.
To define the clinical picture and course of the autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis… 
Highly Cited
1983
Highly Cited
1983
Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
Since 1966, when it first appeared, and through nine editions, McKusick's catalogue has been the definitive reference work on… 
Highly Cited
1983
Highly Cited
1983
A severe combined immunodeficiency mutation in the mouse
The most debilitating human lymphoid deficiency disease, known as severe combined immunodeficiency (SCID), impairs the… 
Highly Cited
1975
Highly Cited
1975
Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity
ATAXIA telangiectasia (AT) is an autosomal recessive defect in man showing among the clinical features1 : cerebellar ataxia… 
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