Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area

Item
http://www.wikidata.org/entity/Q41762644
Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlatesPopulation carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 intervalGlutaric aciduria type I in the Arab and Jewish communities in IsraelThe functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.Multiple mutations in a specific gene in a small geographic area: a common phenomenon?
P2860

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area

Item
http://www.wikidata.org/entity/Q41762644
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Multiple mutations are respons ...... phy in a small geographic area
@en
type
label
Multiple mutations are respons ...... phy in a small geographic area
@en
prefLabel
Multiple mutations are respons ...... phy in a small geographic area
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Multiple mutations are respons ...... phy in a small geographic area
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932