Arg450
Web14 dic 2024 · For discussion of the arg450-to-his (R450H) substitution in the ACADVL gene that was found in compound heterozygous state in a Japanese patient with VLCAD … WebGDF7 is synthesized as a large precursor protein that consists of an N-terminal 19 amino acid (aa) signal sequence, a 302 aa pro region and a 129 aa C-terminal mature peptide. At the amino acid level, mature human GDF-7 shares 85% and 88% aa sequence identity with mature GDF-7 in mouse and rat, respectively. Mature human GDF-7 lacks a ...
Arg450
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WebREPORT Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior Arjan P.M. de Brouwer, 1,14* Rami Abou Jamra,2 3 Nadine Ko¨rtel,4,14 Clara Soyris,5 Daniel L. Polla, 6 Modi Safra, 5Avia Zisso, Christopher A. Powell,7 Pedro Rebelo-Guiomar,7 Nadja Dinges,4 Violeta Morin, 4Michael Stock, … WebNM_001395413.1(POR):c.1347G>A (p.Pro449_Arg450=) AND Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Clinical significance: …
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