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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
Mitochondrial DNA (mtDNA)–depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in mtDNA copy number.Expand
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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitusExpand
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Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
Congenital hypotrichosis associated with juvenile macular dystrophy (HJMD; MIM601553) is an autosomal recessive disorder of unknown etiology, characterized by hair loss heralding progressive macularExpand
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A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
We characterized an autosomal-recessive syndrome of focal epilepsy, dysarthria, and mild to moderate intellectual disability in a consanguineous Arab-Israeli family associated with subtle corticalExpand
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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical gray platelets on peripheral smears. GPSExpand
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Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
Crohn disease (CD), an inflammatory bowel disease, is a multifactorial trait with the highest frequency in Ashkenazi Jewish (AJ) individuals of Central European origin. Recently, three commonExpand
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Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
Obesity is a major public health concern, and complementary research strategies have been directed toward the identification of the underlying causative gene mutations that affect the normal pathwaysExpand
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A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees
TLDR
We introduce Superlink-Online SNP, a new powerful online system that streamlines the linkage analysis of SNP data. Expand
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Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene
The aims of this study were to (1) characterize the clinical phenotype, (2) define the causative mutation, and (3) correlate the clinical phenotype with genotype in a large consanguineous Arab familyExpand
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