一名患有伯纳德-索利尔综合征且22q11.2区域存在迪乔治/心脏-颜面综合征染色体区域缺失的患者的鉴定。 - Suppr

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超能文献

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

作者信息

Budarf M L, Konkle B A, Ludlow L B, Michaud D, Li M, Yamashiro D J, McDonald-McGinn D, Zackai E H, Driscoll D A

机构信息

Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA.

出版信息

Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763.

DOI:10.1093/hmg/4.4.763

PMID:7633430

Abstract

摘要

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Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

作者信息

Budarf M L, Konkle B A, Ludlow L B, Michaud D, Li M, Yamashiro D J, McDonald-McGinn D, Zackai E H, Driscoll D A

机构信息

Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA.

出版信息

Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763.

DOI:10.1093/hmg/4.4.763

PMID:7633430

Abstract

摘要