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Quoted phrase not found in phrase index: "Erythrokeratodermia variabilis et progressiva 5"
Page 1
Genetic linkage between erythrokeratodermia variabilis and Rh locus.
Hum Genet. 1984;68(2):165-8. doi: 10.1007/BF00279308.
Hum Genet. 1984.
PMID: 6437964
A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). The autosomal-dominant trait appeared to segregate rather consistently with the cde (r) gene complex of the Rh system. Only one recombinant …
A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). …
Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
Richard G, Lin JP, Smith L, Whyte YM, Itin P, Wollina U, Epstein E Jr, Hohl D, Giroux JM, Charnas L, Bale SJ, DiGiovanna JJ.
Richard G, et al.
J Invest Dermatol. 1997 Nov;109(5):666-71. doi: 10.1111/1523-1747.ep12337713.
J Invest Dermatol. 1997.
PMID: 9347797
Free article.
We ascertained five extended pedigrees with different phenotypes for a linkage study. Three families presented with localized erythrokeratodermia variabilis, and one with erythrokeratodermia and ataxia. ...Multipoint linkage and haplotype analyses place er …
We ascertained five extended pedigrees with different phenotypes for a linkage study. Three families presented with localized erythrokera …
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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K.
Bariana TK, et al.
Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22.
Haematologica. 2019.
PMID: 30467204
Free PMC article.
KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR result in the severe skin disorder erythrokeratodermia variabilis et progressiva-4 Four of the eight reported cases …
KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR resu …
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