Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

AJ van Essen; IM Mulder; P van der Vlies; AH van der Hout; CHCM Buys; RMW Hofstra; JT den Dunnen

doi:10.1002/ajmg.a.10056

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

AJ van Essen^*, IM Mulder, P van der Vlies, AH van der Hout, CHCM Buys, RMW Hofstra, JT den Dunnen

^*Corresponding author for this work

Faculty of Medical Sciences/UMCG

Research output: Contribution to journal › Letter › Academic › peer-review

24 Citations (Scopus)

Original language	English
Pages (from-to)	296-298
Number of pages	3
Journal	American Journal of Medical Genetics. Part A
Volume	118A
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.10056
Publication status	Published - 30-Apr-2003

Keywords

LETHAL OSTEOGENESIS IMPERFECTA
DMD GENE
GERMINAL MOSAICISM
PARENTAL MOSAICISM
I COLLAGEN
CDNA
RECURRENCE
DELETIONS
IDENTIFICATION
HYBRIDIZATION

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@article{3aa4b2d1d0524127a6549a4f91d143dc,

title = "Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy",

keywords = "LETHAL OSTEOGENESIS IMPERFECTA, DMD GENE, GERMINAL MOSAICISM, PARENTAL MOSAICISM, I COLLAGEN, CDNA, RECURRENCE, DELETIONS, IDENTIFICATION, HYBRIDIZATION",

author = "{van Essen}, AJ and IM Mulder and {van der Vlies}, P and {van der Hout}, AH and CHCM Buys and RMW Hofstra and {den Dunnen}, JT",

year = "2003",

month = apr,

day = "30",

doi = "10.1002/ajmg.a.10056",

language = "English",

volume = "118A",

pages = "296--298",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "Wiley",

number = "3",

}

van Essen, AJ, Mulder, IM, van der Vlies, P, van der Hout, AH, Buys, CHCM, Hofstra, RMW & den Dunnen, JT 2003, 'Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy', American Journal of Medical Genetics. Part A, vol. 118A, no. 3, pp. 296-298. https://doi.org/10.1002/ajmg.a.10056

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. / van Essen, AJ; Mulder, IM; van der Vlies, P et al.

In: American Journal of Medical Genetics. Part A, Vol. 118A, No. 3, 30.04.2003, p. 296-298.

Research output: Contribution to journal › Letter › Academic › peer-review

TY - JOUR

T1 - Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

AU - van Essen, AJ

AU - Mulder, IM

AU - van der Vlies, P

AU - van der Hout, AH

AU - Buys, CHCM

AU - Hofstra, RMW

AU - den Dunnen, JT

PY - 2003/4/30

Y1 - 2003/4/30

KW - LETHAL OSTEOGENESIS IMPERFECTA

KW - DMD GENE

KW - GERMINAL MOSAICISM

KW - PARENTAL MOSAICISM

KW - I COLLAGEN

KW - CDNA

KW - RECURRENCE

KW - DELETIONS

KW - IDENTIFICATION

KW - HYBRIDIZATION

U2 - 10.1002/ajmg.a.10056

DO - 10.1002/ajmg.a.10056

M3 - Letter

VL - 118A

SP - 296

EP - 298

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 3

ER -