Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Stefanie Weber; Katja Strasser; Sabine Rath; Achim Kittke; Sonja Beicht; Martin Alberer; Bärbel Lange-Sperandio; Peter F Hoyer; Marcus R Benz; Sabine Ponsel; Lutz T Weber; Hanns-Georg Klein; Julia Hoefele

doi:10.1007/s00467-015-3302-4

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Stefanie Weber
, Katja Strasser (First author)
, Sabine Rath
, Achim Kittke
, Sonja Beicht
, Martin Alberer
, Bärbel Lange-Sperandio
, Peter F Hoyer
, Marcus R Benz
, Sabine Ponsel
, Lutz T Weber
, Hanns-Georg Klein
, Julia Hoefele

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

39 Citations (Web of Science)

Original language	English
Pages (from-to)	941-955
Journal	PEDIATRIC NEPHROLOGY
Volume	31
Issue number	6
DOIs	https://doi.org/10.1007/s00467-015-3302-4
Publication status	Published - 2016

Keywords

FOCAL SEGMENTAL GLOMERULOSCLEROSIS
GENOTYPE-PHENOTYPE CORRELATIONS
BENIGN FAMILIAL HEMATURIA
COL4A5 COLLAGEN GENE
COL4A3/COL4A4 MUTATIONS
MOLECULAR ANALYSIS
NATURAL-HISTORY
RENAL-FAILURE
PCR
DIAGNOSIS

Access to Document

10.1007/s00467-015-3302-4

Cite this

Weber, S., Strasser, K., Rath, S., Kittke, A., Beicht, S., Alberer, M., Lange-Sperandio, B., Hoyer, P. F., Benz, M. R., Ponsel, S., Weber, L. T., Klein, H.-G., & Hoefele, J. (2016). Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. PEDIATRIC NEPHROLOGY , 31(6), 941-955. https://doi.org/10.1007/s00467-015-3302-4

Weber, Stefanie ; Strasser, Katja ; Rath, Sabine et al. / Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. In: PEDIATRIC NEPHROLOGY 2016 ; Vol. 31, No. 6. pp. 941-955.

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title = "Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.",

keywords = "FOCAL SEGMENTAL GLOMERULOSCLEROSIS, GENOTYPE-PHENOTYPE CORRELATIONS, BENIGN FAMILIAL HEMATURIA, COL4A5 COLLAGEN GENE, COL4A3/COL4A4 MUTATIONS, MOLECULAR ANALYSIS, NATURAL-HISTORY, RENAL-FAILURE, PCR, DIAGNOSIS",

author = "Stefanie Weber and Katja Strasser and Sabine Rath and Achim Kittke and Sonja Beicht and Martin Alberer and B{\"a}rbel Lange-Sperandio and Hoyer, \{Peter F\} and Benz, \{Marcus R\} and Sabine Ponsel and Weber, \{Lutz T\} and Hanns-Georg Klein and Julia Hoefele",

year = "2016",

doi = "10.1007/s00467-015-3302-4",

language = "English",

volume = "31",

pages = "941--955",

journal = "PEDIATRIC NEPHROLOGY ",

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Weber, S, Strasser, K, Rath, S, Kittke, A, Beicht, S, Alberer, M, Lange-Sperandio, B, Hoyer, PF, Benz, MR, Ponsel, S, Weber, LT, Klein, H-G & Hoefele, J 2016, 'Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.', PEDIATRIC NEPHROLOGY , vol. 31, no. 6, pp. 941-955. https://doi.org/10.1007/s00467-015-3302-4

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. / Weber, Stefanie; Strasser, Katja (First author); Rath, Sabine et al.
In: PEDIATRIC NEPHROLOGY , Vol. 31, No. 6, 2016, p. 941-955.

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

TY - JOUR

T1 - Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

AU - Weber, Stefanie

AU - Strasser, Katja

AU - Rath, Sabine

AU - Kittke, Achim

AU - Beicht, Sonja

AU - Alberer, Martin

AU - Lange-Sperandio, Bärbel

AU - Hoyer, Peter F

AU - Benz, Marcus R

AU - Ponsel, Sabine

AU - Weber, Lutz T

AU - Klein, Hanns-Georg

AU - Hoefele, Julia

PY - 2016

Y1 - 2016

KW - FOCAL SEGMENTAL GLOMERULOSCLEROSIS

KW - GENOTYPE-PHENOTYPE CORRELATIONS

KW - BENIGN FAMILIAL HEMATURIA

KW - COL4A5 COLLAGEN GENE

KW - COL4A3/COL4A4 MUTATIONS

KW - MOLECULAR ANALYSIS

KW - NATURAL-HISTORY

KW - RENAL-FAILURE

KW - PCR

KW - DIAGNOSIS

U2 - 10.1007/s00467-015-3302-4

DO - 10.1007/s00467-015-3302-4

M3 - Original Article

C2 - 26809805

SN - 0931-041X

VL - 31

SP - 941

EP - 955

JO - PEDIATRIC NEPHROLOGY

JF - PEDIATRIC NEPHROLOGY

IS - 6

ER -

Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M et al. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. PEDIATRIC NEPHROLOGY . 2016;31(6):941-955. doi: 10.1007/s00467-015-3302-4