Table of contents

Letters to the editor

• Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)

  (1 May, 2000) Free

  BARBARA BURWINKEL, M STUART TANNER, MANFRED W KILIMANN
• Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity

  (1 May, 2000) Free

  KATHY PRITCHARD-JONES, NAZNEEN RAHMAN, MARY GERRARD, DICK VARIEND, LINDA KING-UNDERWOOD
• Silver-Russell syndrome and ring chromosome 7 (1 May, 2000) Free

  EMMA L WAKELING, MEGAN HITCHINS, PHILIP STANIER, DAVID MONK, GUDRUN E MOORE, MICHAEL A PREECE
• Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma

  (1 May, 2000) Free

  P-S GAO, X-Q MAO, M H ROBERTS, Y ARINOBU, M AKAIWA, T ENOMOTO, Y DAKE, M KAWAI, S SASAKI, N HAMASAKI, K IZUHARA, T SHIRAKAWA, J M HOPKIN
• No linkage or association of the IL-4Rα gene Q576R mutation with atopic asthma in Italian families

  (1 May, 2000) Free

  CRISTINA PATUZZO, ELISABETTA TRABETTI, GIOVANNI MALERBA, LAURA CARMEN MARTINATI, ATTILIO L BONER, LYDIA PESCOLLDERUNGG, GIOVANNA ZANONI, PIER FRANCO PIGNATTI
• Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r)

  (1 May, 2000) Free

  DAVID A R BESSANT, ANNETTE M PAYNE, BRYAN E SNOW, GUILLERMO ANTIÑOLO, S QASIM MEHDI, ALAN C BIRD, DAVID P SIDEROVSKI, SHOMI S BHATTACHARYA
• Incidence and molecular mechanism of aberrant splicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome (1 May, 2000) Free

  H R WATERHAM, W OOSTHEIM, G J ROMEIJN, R J A WANDERS, R C M HENNEKAM
• Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor geneSALL1

  (1 May, 2000) Free

  HANS KNOBLAUCH, GUNDULA THIEL, SIGRID TINSCHERT, HANNELORE KÖRNER, CORNELIA TENNSTEDT, RABIH CHAOUI, JÜRGEN KOHLHASE, CHRISTA DIXKENS, CRISTOPHER BLANCK
• Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

  (1 May, 2000) Free

  SHINJI SAITOH, NAOKI OISO, TAKAHITO WADA, OSAMU NARAZAKI, KAZUYOSHI FUKAI
• Anticipation in progressive diaphyseal dysplasia (1 May, 2000) Free

  JORGE M SARAIVA
• Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting thePMP22 gene

  (1 May, 2000) Free

  MARGA NADAL, ALBERTO VALIENTE, ANNA DOMÈNECH, MELANIE PRITCHARD, XAVIER ESTIVILL, MARIA ANTONIA RAMOS-ARROYO