The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
about
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.Predicting Ca2+ -binding sites using refined carbon clusters.The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.Localization of the delta-like-1-binding site in human Notch-1 and its modulation by calcium affinity.
P2860
The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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name
The N1317H substitution associ ...... wth factor-like (EGF) domains.
@en
The N1317H substitution associ ...... 1 epidermal growth factor-like
@nl
type
label
The N1317H substitution associ ...... wth factor-like (EGF) domains.
@en
The N1317H substitution associ ...... 1 epidermal growth factor-like
@nl
prefLabel
The N1317H substitution associ ...... wth factor-like (EGF) domains.
@en
The N1317H substitution associ ...... 1 epidermal growth factor-like
@nl
P2860
P356
P1476
The N1317H substitution associ ...... wth factor-like (EGF) domains.
@en
P2093
Jason A Davis
Penny A Handford
P2860
P304
28807-28814
P356
10.1074/JBC.M704015200
P407
P577
2007-07-27T00:00:00Z