First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.

about

First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.

Item

http://www.wikidata.org/entity/Q54542083

description

2011 nî lūn-bûn

@nan

2011年の論文

@ja

2011年学术文章

@wuu

2011年学术文章

@zh-cn

2011年学术文章

@zh-hans

2011年学术文章

@zh-my

2011年学术文章

@zh-sg

2011年學術文章

@yue

2011年學術文章

@zh

2011年學術文章

@zh-hant

name

First reported case of prenata ...... eficiency in a Chinese family.

@en

First reported case of prenata ...... eficiency in a Chinese family.

@nl

type

Item

label

First reported case of prenata ...... eficiency in a Chinese family.

@en

First reported case of prenata ...... eficiency in a Chinese family.

@nl

prefLabel

First reported case of prenata ...... eficiency in a Chinese family.

@en

First reported case of prenata ...... eficiency in a Chinese family.

@nl

P1476

First reported case of prenata ...... eficiency in a Chinese family.

@en

P2093

Chak-Ho Li

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

Chi-Chiu So

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

Li-Chong Chan

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

Mary Tang

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

Serge Pissard

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

Shau-Yin Ha

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

P2860

Fetal anaemia due to pyruvate kinase deficiency

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

The detection of large deletions or duplications in genomic DNA.

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency.

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.

P304

377-379

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

P31

scholarly article

P356

10.1179/102453311X13127324303317

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

P433

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

P478

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

P577

2011-11-01T00:00:00Z

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

P698

22183074

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