Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome.
about
The pathobiology of splicingA C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome familyATP7A-related copper transport diseases-emerging concepts and future trendsA novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseLoss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humansInherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.
P2860
Q24634680-0139CE73-6716-438C-98A1-D78563FCFA88Q24678781-5E793698-D7D6-45E1-A55E-1F246DEDF6A7Q28302938-80332C14-0FDD-4C17-9EB9-D1D7337BEA92Q28367963-1944F8A6-B530-48E7-8D24-3EE6B46CB3DAQ29144921-A9C52D07-A974-4CCE-8AC9-D589AA701051Q34028117-7E4BF364-C6CB-4229-A995-9EBFEEC2D4E5Q41863725-D26A11EB-27F8-4B72-91D0-CFFD959BA04F
P2860
Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome.
description
1975 nî lūn-bûn
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1975年の論文
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1975年学术文章
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name
Skeletal dysplasia, occipital ...... hy- a new hereditary syndrome.
@en
Skeletal dysplasia, occipital ...... hy- a new hereditary syndrome.
@nl
type
label
Skeletal dysplasia, occipital ...... hy- a new hereditary syndrome.
@en
Skeletal dysplasia, occipital ...... hy- a new hereditary syndrome.
@nl
prefLabel
Skeletal dysplasia, occipital ...... hy- a new hereditary syndrome.
@en
Skeletal dysplasia, occipital ...... hy- a new hereditary syndrome.
@nl
P2093
P1476
Skeletal dysplasia, occipital ...... hy- a new hereditary syndrome.
@en
P2093
P577
1975-01-01T00:00:00Z