about
Short and tall stature: a new paradigm emergesHuman genetic disorders and knockout mice deficient in glycosaminoglycanSex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis.PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.The different roles of aggrecan interaction domainsA pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycansNext-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity GeneSulfonation, an underexploited area: from skeletal development to infectious diseases and cancer.Defective PAPSS2 causes SEMD-PAAutosomal recessive brachyolmia: early radiological findings.Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
PAPSS2 mutations cause autosomal recessive brachyolmia.
@en
PAPSS2 mutations cause autosomal recessive brachyolmia.
@nl
type
label
PAPSS2 mutations cause autosomal recessive brachyolmia.
@en
PAPSS2 mutations cause autosomal recessive brachyolmia.
@nl
prefLabel
PAPSS2 mutations cause autosomal recessive brachyolmia.
@en
PAPSS2 mutations cause autosomal recessive brachyolmia.
@nl
P2093
P1476
PAPSS2 mutations cause autosomal recessive brachyolmia.
@en
P2093
Aritoshi Iida
Gen Nishimura
Hirofumi Ohashi
Kazuyuki Takamura
Naomichi Matsumoto
Nobuyuki Murakami
Noriko Miyake
Nursel H Elcioglu
Ok-Hwa Kim
P304
P356
10.1136/JMEDGENET-2012-101039
P407
P577
2012-07-11T00:00:00Z