concentration

期刊名称：HumanMutation

作者：IainMcIntosh,,mano

年份：1995年

期号：第2期

关键词：TypeXcollagen;Mutations;NCldomain;Schmidmetaphyal

chondrodysplasia

摘要：Schmidmetaphyalchondrodysplasia(SMCD)haspreviouslybeenshown

tobetheresultofmutationsinthetypeXcollagengene,erthree

mutationshavebeenidentified,includingtwononnmutations(Y268X,W651X)

andaframeshiftmutation(1856delCC).Eachofthe10SMCDmutationsidentifiedto

dateiswithintheC-terminalnoncollagenousdomainoftypeXcollagenandthree

mainisbelievedtobe

centrationofmutations

withinthisdomainisconsistentwiththehypothesisthatthephenotypeistheresult

ofareductioninthelevelofmaturetypeXcollagenduetothemutant

polypeptide'sinabilitytoparticipateintrimerformation,althoughadominant-

negativemechanismcannotbediscounted,on...

内容由中国教育图书进出口有限公司引进

Concentrationofmutationscausingschmid

metaphyalchondrodysplasiaintheC‐terminal

noncollagenousdomainoftypeXcollagen