000 01627 a2200481 4500
005 20250515124703.0
264 0 _c20090323
008 200903s 0 0 eng d
022 _a0931-041X
024 7 _a10.1007/s00467-008-0878-y
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aNozu, Kandai
245 0 0 _aDetection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.
_h[electronic resource]
260 _bPediatric nephrology (Berlin, Germany)
_cNov 2008
300 _a2085-90 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdult
650 0 4 _aChromosomes, Human, X
650 0 4 _aCollagen Type IV
_xgenetics
650 0 4 _aFemale
650 0 4 _aGene Deletion
650 0 4 _aGenetic Testing
_xmethods
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aKidney
_xmetabolism
650 0 4 _aNephritis, Hereditary
_xgenetics
650 0 4 _aPolymorphism, Single-Stranded Conformational
650 0 4 _aRNA, Messenger
650 0 4 _aReverse Transcriptase Polymerase Chain Reaction
700 1 _aPrzybyslaw Krol, Rafal
700 1 _aOhtsuka, Yasufumi
700 1 _aNakanishi, Koichi
700 1 _aYoshikawa, Norishige
700 1 _aNozu, Yoshimi
700 1 _aKaito, Hiroshi
700 1 _aKanda, Kyoko
700 1 _aHashimura, Yuya
700 1 _aHamasaki, Yuhei
700 1 _aIijima, Kazumoto
700 1 _aMatsuo, Masafumi
773 0 _tPediatric nephrology (Berlin, Germany)
_gvol. 23
_gno. 11
_gp. 2085-90
856 4 0 _uhttps://doi.org/10.1007/s00467-008-0878-y
_zAvailable from publisher's website
999 _c18067589
_d18067589