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Details on Person Jassal, Bijay, 2014-09-19

Class:Id	InstanceEdit:5623756
_displayName	Jassal, Bijay, 2014-09-19
_timestamp	2014-09-19 08:46:06
author	[Person:73447] Jassal, Bijay
dateTime	2014-09-19 12:42:49
(created)	[Person:5623678] Camaschella, Clara [FragmentDeletionModification:5623679] Deletion of residues 104 to 142 [Person:5623680] Lin, Yuh-Feng [Person:5623681] Iolascon, Achille [LiteratureReference:5623682] Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2) [Person:5623683] Dorman, Evgenia [ReplacedResidue:5623684] L-arginine 416 replaced with L-cysteine [ReplacedResidue:5623685] L-leucine 272 replaced with L-proline [Person:5623686] Yu, I-Shing [LiteratureReference:5623687] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload List all 97 refering instances
(modified)	[Summation:426098] The SLC12A3 gene encodes for the Thiazide-sensitive sodium-c... [Reaction:426130] SLC12A3 cotransports Cl-, Na+ from extracellular region to cytosol [Homo sapiens] [Summation:435343] The primary site for absorption of dietary iron is the duode... [Pathway:5619035] Defective SLC17A5 causes Salla disease (SD) and ISSD [Homo sapiens] [Pathway:5619036] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) [Homo sapiens] [Pathway:5619037] Defective transport by SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) [Homo sapiens] [Pathway:5619039] Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [Homo sapiens] [Pathway:5619040] Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) [Homo sapiens] [Pathway:5619041] Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) [Homo sapiens] [Pathway:5619042] Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) [Homo sapiens] List all 120 refering instances
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No pathways have been reviewed or authored by Jassal, Bijay, 2014-09-19 (5623756)