Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

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Genetic analysis of adults heterozygous for ALPL mutations.

P2860

Q52813374-30A5A814-F3B2-4D73-9152-C5E0B6C8B3DB

P2860

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

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http://www.wikidata.org/entity/Q53739961

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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name

Molecular and clinical analysi ...... suspicion of Hypophosphatasia.

@en

Molecular and clinical analysi ...... suspicion of Hypophosphatasia.

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type

Item

label

Molecular and clinical analysi ...... suspicion of Hypophosphatasia.

@en

Molecular and clinical analysi ...... suspicion of Hypophosphatasia.

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prefLabel

Molecular and clinical analysi ...... suspicion of Hypophosphatasia.

@en

Molecular and clinical analysi ...... suspicion of Hypophosphatasia.

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P1476

Molecular and clinical analysi ...... suspicion of Hypophosphatasia

@en

P2093

Gema Gordo

http://www.w3.org/2001/XMLSchema#string

Ignacio Álvarez

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Irene Dapía

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Iza Kramer

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Jesús Argente

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José A Riancho

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José Manuel Iturzaeta

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Karen E Heath

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Leyre Riancho-Zarrabeitia

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María T Darnaude-Ortiz

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P2860

Hypophosphatasia

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia

Cloning, sequencing, and chromosomal localization of human term placental alkaline phosphatase cDNA

Cloning and sequencing of human intestinal alkaline phosphatase cDNA

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Correlations of genotype and phenotype in hypophosphatasia

Hypophosphatasia

Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

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601-610

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scholarly article

P356

10.1002/AJMG.A.37991

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English

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173

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P50

Julián Martinez-Villanueva

P577

2017-01-27T00:00:00Z

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28127875

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P921

hypophosphatasia

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

about

P2860

P2860

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921