Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

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Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

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2015年の論文

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2015年論文

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2015年論文

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Genetic Testing Confirmed the ...... ickets in a 7-Month-Old Infant

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Genetic Testing Confirmed the ...... ickets in a 7-Month-Old Infant

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Genetic Testing Confirmed the ...... ickets in a 7-Month-Old Infant

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Genetic Testing Confirmed the ...... ickets in a 7-Month-Old Infant

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Genetic Testing Confirmed the ...... ickets in a 7-Month-Old Infant

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Genetic Testing Confirmed the ...... ickets in a 7-Month-Old Infant

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P1476

Genetic Testing Confirmed the ...... ickets in a 7-Month-Old Infant

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P2093

Andrew Anjian Sng

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Cindy Weili Ho

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Evelyn Siew-Chuan Koay

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Kah Yin Loke

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Kok Siong Poon

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P2860

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

X-linked hypophosphataemia: a homologous disorder in humans and mice

Primer3--new capabilities and interfaces

Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

A clinician's guide to X-linked hypophosphatemia

Renal handling of phosphate in the first six months of life.

SplicePort--an interactive splice-site analysis tool

Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice

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2324709615598167

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scholarly article

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10.1177/2324709615598167

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2015-07-01T00:00:00Z

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283895305

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26904698

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P932

4748509

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