The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.
作者信息
Opitz J M, Stiles F C, Wise D, Race R R, Sanger R, Von Gemmingen G R, Kierland R R, Cross E G, De Groot W P
出版信息
Am J Hum Genet. 1965 Jul;17(4):325-42.
Abstract
摘要
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本文引用的文献
1
Case for Diagnosis.
Proc R Soc Med. 1918;11(Dermatol Sect):70-3. doi: 10.1177/003591571801100248.
2
[Angiokeratoma corporis diffusum universale (Fabry) with cardio-vaso-renal symptom complex as general disease].
Arztl Wochensch. 1951 Jan 19;6(3):49-55.
3
Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis).
Trans Assoc Am Physicians. 1961;74:366-77.
4
Fabry's disease (angiokeratoma corporis diffusum universale). An unusual syndrome with multisystem involvement and unique skin manifestations.
Am J Med. 1959 Nov;27:829-35. doi: 10.1016/0002-9343(59)90200-1.
5
Angiokeratoma corporis diffusum.
Br J Dermatol. 1955 Mar;67(3):105-9. doi: 10.1111/j.1365-2133.1955.tb12700.x.
6
ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S DISEASE).
Arch Dermatol. 1965 Mar;91:206-18.
7
XG AND G-6-PD IN ISRAELI FAMILIES: AN ADDENDUM.
Ann Hum Genet. 1964 Mar;27:271-2. doi: 10.1111/j.1469-1809.1963.tb00794.x.
8
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9
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10
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Arch Neurol. 1963 Oct;9:373-85. doi: 10.1001/archneur.1963.00460100061007.
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