Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

PQ Rodriguez; B Lohkamp; G Celsi; Christoph Mache; M Auer-Grumbach; A Wernerson; N Hamajima; K Tryggvason; J Patrakka

doi:10.1007/s00467-012-2299-1

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

PQ Rodriguez
, B Lohkamp
, G Celsi
, Christoph Mache
, M Auer-Grumbach
, A Wernerson
, N Hamajima
, K Tryggvason
, J Patrakka

Publikation: Beitrag in Fachzeitschrift › Originalarbeit

22 Quellenangaben (Web of Science)

Originalsprache	Englisch
Fachzeitschrift	Pediatric Nephrology
DOIs	https://doi.org/10.1007/s00467-012-2299-1
Publikationsstatus	Veröffentlicht - 2013

Wissenschaftszweige

302 Klinische Medizin

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10.1007/s00467-012-2299-1

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@article{bc50b87c4a084ce5ad16228ce1729f99,

title = "Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.",

author = "PQ Rodriguez and B Lohkamp and G Celsi and Christoph Mache and M Auer-Grumbach and A Wernerson and N Hamajima and K Tryggvason and J Patrakka",

year = "2013",

doi = "10.1007/s00467-012-2299-1",

language = "English",

journal = "Pediatric Nephrology",

issn = "0931-041X",

publisher = "Springer Science and Business Media Deutschland GmbH",

}

TY - JOUR

T1 - Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

AU - Rodriguez, PQ

AU - Lohkamp, B

AU - Celsi, G

AU - Mache, Christoph

AU - Auer-Grumbach, M

AU - Wernerson, A

AU - Hamajima, N

AU - Tryggvason, K

AU - Patrakka, J

PY - 2013

Y1 - 2013

UR - https://www.webofscience.com/wos/woscc/full-record/WOS:000313431600021

UR - https://pubmed.ncbi.nlm.nih.gov/22961558

U2 - 10.1007/s00467-012-2299-1

DO - 10.1007/s00467-012-2299-1

M3 - Research article

C2 - 22961558

SN - 0931-041X

JO - Pediatric Nephrology

JF - Pediatric Nephrology

ER -