Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency

被引：10

作者：

Ceballos-Picot, I. ^{[1
,2
,3
]}

Guest, G. ^{[4
]}

Moriniere, V.

Mockel, L. ^{[1
]}

Daudon, M. ^{[6
]}

Malan, V.

Antignac, C. ^{[2
,5
]}

Heidet, L. ^{[4
]}

机构：

[1] Hop Necker Enfants Malad, APHP, Lab Biochim Metabol, Paris, France

[2] Univ Paris 05, Paris, France

[3] Ctr Reference Malad Hereditaires Metab, Paris, France

[4] Hop Necker Enfants Malad, APHP, Serv Nephrol Pediat, Paris, France

[5] Ctr Reference Malad Renales Hereditaires Enfant &, APHP, Paris, France

[6] Hop Necker Enfants Malad, APHP, Lab Biochim A, Paris, France

来源：

CLINICAL GENETICS | 2011年 / 80卷 / 02期

关键词：

TRISOMY-16;

D O I：

10.1111/j.1399-0004.2011.01626.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：199 / 201

页数：3

共 8 条

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[7]

2-X

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