Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015

Sabine Rudnik-Schoeneborn; Thomas Eggermann; Wolfram Kress; Henny H. Lemmink; Jan-Maarten Cobben; Klaus Zerres

doi:10.1038/ejhg.2015.90

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015

Sabine Rudnik-Schoeneborn^*
, Thomas Eggermann
, Wolfram Kress
, Henny H. Lemmink
, Jan-Maarten Cobben
, Klaus Zerres

^*Corresponding author for this work

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

3 Citations (Scopus)

Original language	English
Number of pages	3
Journal	European Journal of Human Genetics
Volume	23
Issue number	11
DOIs	https://doi.org/10.1038/ejhg.2015.90
Publication status	Published - Oct-2015

Keywords

COPY NUMBER
SMN1
IDENTIFICATION
MUTATIONS
PHENOTYPE
DIAGNOSIS
PCR

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10.1038/ejhg.2015.90

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Cite this

@article{17014728d72741f49510069577c1a8a5,

title = "Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015",

keywords = "COPY NUMBER, SMN1, IDENTIFICATION, MUTATIONS, PHENOTYPE, DIAGNOSIS, PCR",

author = "Sabine Rudnik-Schoeneborn and Thomas Eggermann and Wolfram Kress and Lemmink, \{Henny H.\} and Jan-Maarten Cobben and Klaus Zerres",

year = "2015",

month = oct,

doi = "10.1038/ejhg.2015.90",

language = "English",

volume = "23",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "11",

}

TY - JOUR

T1 - Clinical utility gene card for

T2 - Proximal spinal muscular atrophy (SMA) - update 2015

AU - Rudnik-Schoeneborn, Sabine

AU - Eggermann, Thomas

AU - Kress, Wolfram

AU - Lemmink, Henny H.

AU - Cobben, Jan-Maarten

AU - Zerres, Klaus

PY - 2015/10

Y1 - 2015/10

KW - COPY NUMBER

KW - SMN1

KW - IDENTIFICATION

KW - MUTATIONS

KW - PHENOTYPE

KW - DIAGNOSIS

KW - PCR

U2 - 10.1038/ejhg.2015.90

DO - 10.1038/ejhg.2015.90

M3 - Article

SN - 1018-4813

VL - 23

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 11

ER -