Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.

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Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

@wuu

2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Novel mutations in the transme ...... lic dysplasia, type Maroteaux.

@en

Novel mutations in the transme ...... lic dysplasia, type Maroteaux.

@nl

type

Item

label

Novel mutations in the transme ...... lic dysplasia, type Maroteaux.

@en

Novel mutations in the transme ...... lic dysplasia, type Maroteaux.

@nl

prefLabel

Novel mutations in the transme ...... lic dysplasia, type Maroteaux.

@en

Novel mutations in the transme ...... lic dysplasia, type Maroteaux.

@nl

P1476

Novel mutations in the transme ...... lic dysplasia, type Maroteaux.

@en

P2093

Ashwin Dalal

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Moni Tuteja

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Priyanka Srivastava

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Shubha R Phadke

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P2860

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature

Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

Cardiac fibrosis in mice lacking brain natriuretic peptide

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.

P2888

s12041-016-0715-1

P304

905-909

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P31

scholarly article

P356

10.1007/S12041-016-0715-1

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P433

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P478

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P50

Kausik Mandal

P577

2016-12-01T00:00:00Z

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P698

27994189

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P921

transmembrane protein

India