Razlika između verzija stranice "Hromosom 7"
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m →Bolesti i poremećaji: razne ispravke |
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Red 4:
== Bolesti i poremećaji ==
Neke od slijedećih bolesti su u vezi sa [[gen]]ima hromosoma 7:
* [[argininosukcinična acidurija]]<ref name="=Scherer 2003">{{cite journal | author=Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, et al.| title=Human chromosome 7: DNA sequence and biology | journal=Science | year=2003 | pages=767–72 | volume=300 | issue=5620 | pmid=12690205 | doi=10.1126/science.1083423 | pmc=2882961}}</ref><ref name="Nagamani 2012">{{cite journal |author=Nagamani SC, Erez A, Lee B |title=Argininosuccinate lyase deficiency |journal=Genet. Med. |volume=14 |issue=5 |pages=501–7 |date=
* [[cerebralno kavernozna malformacija]]<ref name="=Scherer 2003"/><ref name="Gilbert 2002"/>
* [[Charcot–Marie–Tooth bolest]], tip 2D<ref name="=Scherer 2003"/>
Red 10:
* [[citrulinemija]], tip II, adultni napad,<ref name="=Scherer 2003"/>
* [[cistična fibroza]]<ref name="Hillier 2003"/><ref name="=Scherer 2003"/><ref name="Gilbert 2002"/>
* distalno spinalna [[muskularna atrofija]], tip V{{izvor|date=
* [[Ehlers–Danlos sindrom]], [[artrohalazija]] tip VII<ref name="=Scherer 2003"/>
* [[Ehlers–Danlos sindrom]], klasični tip<ref name="=Scherer 2003"/>
* [[hemohromatoza]], tip 3<ref name="=Scherer 2003"/>
* [[holestaza]], progresivna porodična intrahepatična 3<ref name="=Scherer 2003"/>
* [[„javorov sirup“ urinska bolest]]{{izvor|date=
* [[Juvenilni dijabetes]], tip 3{{izvor|date=
* kongenitalno bilateralno odsustvo ''[[vas deferens]]''<ref name="=Scherer 2003"/>
* [[Marfan sindrom]]<ref name="=Scherer 2003"/>
Red 28:
* [[nesindromska gluhoća]], [[autosom]]na recesivna<ref name="=Scherer 2003"/>
* [[Norman–Roberts sindrom]], [[lisencefalja]] sindrom, Norman-Roberts tip<ref name="=Scherer 2003"/>
*'' [[osteogenesis imperfecta]]''{{izvor|date=
* ''[[osteogenesis imperfecta]]'', tip I{{izvor|date=
*''[[osteogenesis imperfecta]]'', tip II{{izvor|date=
*''[[osteogenesis imperfecta]]'', tip III{{izvor|date=
* ''[[osteogenesis imperfecta]], tip IV{{izvor|date=
* p47-phox-deficijentna [[hronična granulomatozna bolest]]{{izvor|date=
* [[Pendred sindrom]]<ref name="=Scherer 2003"/><ref name="Grimaldi 2007">{{cite journal |author=Grimaldi R, Capuano P, Miranda N, Wagner C, Capasso G |title=[Pendrin: physiology, molecular biology and clinical importance] |language=Italian |journal=G Ital Nefrol |volume=24 |issue=4 |pages=288–94 |year=2007 |pmid=17659500 |doi= |url=}}</ref>
* [[razvoj]]na verbalna [[dispraksija]]<ref name="Newbury 2010">{{cite journal |author=Newbury DF, Monaco AP |title=Genetic advances in the study of speech and language disorders |journal=Neuron |volume=68 |issue=2 |pages=309–20 |date=
* [[Romano–Ward sindrom]]{{izvor|date=
* [[Shwachman–Diamond sindrom]]<ref name="=Scherer 2003"/><ref name="Gilbert 2002"/>
* [[Silver-Russell sindrom]]<ref name="Eggermann 2010">{{cite journal |author=Eggermann T, Begemann M, Binder G, Spengler S |title=Silver-Russell syndrome: genetic basis and molecular genetic testing |journal=Orphanet J Rare Dis |volume=5 |issue= |pages=19 |year=2010 |pmid=20573229 |pmc=2907323 |doi=10.1186/1750-1172-5-19 |url=}}</ref>
* [[Specifično jezičko neuparivanje]]<ref name="=Scherer 2003"/><ref name="Newbury 2010"/>
*[[Šizofrenija]]{{izvor|date=
* [[Tritanop]]ija ili [[tritanomalija]], [[sljepilo za boje]]<ref name="=Scherer 2003"/>
*[[Williams sindrom]]<ref name="Hillier 2003"/><ref name="=Scherer 2003"/><ref name="Zarchi 2010">{{cite journal |author=Zarchi O, Attias J, Gothelf D |title=Auditory and visual processing in Williams syndrome |journal=Isr J Psychiatry Relat Sci |volume=47 |issue=2 |pages=125–31 |year=2010 |pmid=20733255 |doi= |url=}}</ref>
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