Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.
about
Molecular Physiology of Membrane Guanylyl Cyclase Receptors.A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
P2860
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.
description
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name
Homozygous sequence variants i ...... M) in consanguineous families.
@en
Homozygous sequence variants i ...... melic dysplasia Maroteaux type
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type
label
Homozygous sequence variants i ...... M) in consanguineous families.
@en
Homozygous sequence variants i ...... melic dysplasia Maroteaux type
@nl
prefLabel
Homozygous sequence variants i ...... M) in consanguineous families.
@en
Homozygous sequence variants i ...... melic dysplasia Maroteaux type
@nl
P2093
P2860
P356
P1476
Homozygous sequence variants i ...... M) in consanguineous families.
@en
P2093
Irfanullah
Muhammad Umair
Saadullah Khan
Wasim Ahmad
P2860
P304
P356
10.1111/AHG.12116
P407
P577
2015-05-11T00:00:00Z