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

36 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